{"id":"https://openalex.org/W2032890482","doi":"https://doi.org/10.1210/jcem-73-2-262","title":"Nucleotide Deletion Resulting in Frameshift as a Possible Cause of Complete Thyroxine-Binding Globulin Deficiency in Six Japanese Families","display_name":"Nucleotide Deletion Resulting in Frameshift as a Possible Cause of Complete Thyroxine-Binding Globulin Deficiency in Six Japanese Families","publication_year":1991,"publication_date":"1991-08-01","ids":{"openalex":"https://openalex.org/W2032890482","doi":"https://doi.org/10.1210/jcem-73-2-262","mag":"2032890482","pmid":"https://pubmed.ncbi.nlm.nih.gov/1906892"},"language":"en","primary_location":{"id":"doi:10.1210/jcem-73-2-262","doi":"https://doi.org/10.1210/jcem-73-2-262","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jcem-73-2-262","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5088467506","display_name":"Ikuo Yamamori","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I4210090647","display_name":"Nagoya University Hospital","ror":"https://ror.org/008zz8m46","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210090647"]},{"id":"https://openalex.org/I4405286286","display_name":"Research Institute of Environmental Medicine, Nagoya University","ror":"https://ror.org/01qvr7m20","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"IKUO YAMAMORI","raw_affiliation_strings":["Department of Internal Medicine, Nagoya University School of Medicine, Japan","First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Nagoya University School of Medicine, Japan","institution_ids":["https://openalex.org/I4210090647","https://openalex.org/I60134161"]},{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","institution_ids":["https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","institution_ids":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"middle","author":{"id":null,"display_name":"YUICHI MORI","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I4405286286","display_name":"Research Institute of Environmental Medicine, Nagoya University","ror":"https://ror.org/01qvr7m20","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"YUICHI MORI","raw_affiliation_strings":["First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096","https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","institution_ids":["https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","institution_ids":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108772106","display_name":"Hisao Seo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I4405286286","display_name":"Research Institute of Environmental Medicine, Nagoya University","ror":"https://ror.org/01qvr7m20","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"HISAO SEO","raw_affiliation_strings":["First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096","https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","institution_ids":["https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","institution_ids":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112179748","display_name":"Yoshifumi HIROOKA","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I4405286286","display_name":"Research Institute of Environmental Medicine, Nagoya University","ror":"https://ror.org/01qvr7m20","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"YOSHIFUMI HIROOKA","raw_affiliation_strings":["First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096","https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","institution_ids":["https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","institution_ids":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109390209","display_name":"Shuji Imamura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I4405286286","display_name":"Research Institute of Environmental Medicine, Nagoya University","ror":"https://ror.org/01qvr7m20","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"SHUJI IMAMURA","raw_affiliation_strings":["First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096","https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","institution_ids":["https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","institution_ids":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046357951","display_name":"Yoshitaka Miura","orcid":"https://orcid.org/0000-0003-2494-9256","observed_orcids":["https://orcid.org/0000-0003-2494-9256"]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I4405286286","display_name":"Research Institute of Environmental Medicine, Nagoya University","ror":"https://ror.org/01qvr7m20","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"YOSHITAKA MIURA","raw_affiliation_strings":["First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096","https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","institution_ids":["https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","institution_ids":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036701940","display_name":"Nobuo Matsui","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I4405286286","display_name":"Research Institute of Environmental Medicine, Nagoya University","ror":"https://ror.org/01qvr7m20","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"NOBUO MATSUI","raw_affiliation_strings":["First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096","https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","institution_ids":["https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","institution_ids":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108218161","display_name":"Yutaka Oiso","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I4405286286","display_name":"Research Institute of Environmental Medicine, Nagoya University","ror":"https://ror.org/01qvr7m20","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"YUTAKA OISO","raw_affiliation_strings":["First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan; The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan; The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096","https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"First Department of Internal Medicine, Nagoya University School of Medicine Aichi, Japan","institution_ids":["https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University Aichi, Japan","institution_ids":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"raw_affiliation_string":"The Fourth Department of Internal Medicine, Aichi Medical University Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":2.4575,"has_fulltext":false,"cited_by_count":37,"citation_normalized_percentile":{"value":0.88215912,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"73","issue":"2","first_page":"262","last_page":"267"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10293","display_name":"Thyroid Disorders and Treatments","score":0.9307000041007996,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10293","display_name":"Thyroid Disorders and Treatments","score":0.9307000041007996,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.04879999905824661,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12421","display_name":"Adrenal Hormones and Disorders","score":0.0024999999441206455,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/thyroxine-binding-globulin","display_name":"thyroxine-binding globulin","score":0.878000020980835},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8230000138282776},{"id":"https://openalex.org/keywords/single-nucleotide-deletion","display_name":"single nucleotide deletion","score":0.875},{"id":"https://openalex.org/keywords/x-linked-inheritance","display_name":"X-linked inheritance","score":0.921999990940094},{"id":"https://openalex.org/keywords/japanese-family","display_name":"Japanese family","score":0.5879999995231628},{"id":"https://openalex.org/keywords/n-glycosylation-sites","display_name":"N-glycosylation sites","score":0.9559999704360962},{"id":"https://openalex.org/keywords/protein-structure","display_name":"protein structure","score":0.3479999899864197},{"id":"https://openalex.org/keywords/heterozygous-variants","display_name":"heterozygous mutation","score":0.48399999737739563},{"id":"https://openalex.org/keywords/restriction-fragment-length-polymorphism","display_name":"restriction fragment length polymorphism","score":0.546999990940094}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8022013902664185},{"id":"https://openalex.org/C2777239931","wikidata":"https://www.wikidata.org/wiki/Q409646","display_name":"Thyroxine-binding globulin","level":4,"score":0.5405837893486023},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5258275270462036},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3373619318008423},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.20577239990234375},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17855170369148254},{"id":"https://openalex.org/C2778288131","wikidata":"https://www.wikidata.org/wiki/Q327362","display_name":"Triiodothyronine","level":3,"score":0.05854499340057373},{"id":"https://openalex.org/C526584372","wikidata":"https://www.wikidata.org/wiki/Q16399","display_name":"Thyroid","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007564","descriptor_name":"Japan","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013972","descriptor_name":"Thyrotropin","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D013974","descriptor_name":"Thyroxine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D013975","descriptor_name":"Thyroxine-Binding Proteins","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D013975","descriptor_name":"Thyroxine-Binding Proteins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D013975","descriptor_name":"Thyroxine-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014284","descriptor_name":"Triiodothyronine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D015183","descriptor_name":"Restriction Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015345","descriptor_name":"Oligonucleotide Probes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1210/jcem-73-2-262","doi":"https://doi.org/10.1210/jcem-73-2-262","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jcem-73-2-262","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},{"id":"pmid:1906892","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1906892","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of clinical endocrinology and metabolism","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W33958008","https://openalex.org/W1486018834","https://openalex.org/W1496033005","https://openalex.org/W1534277448","https://openalex.org/W1576472122","https://openalex.org/W1967844640","https://openalex.org/W1990441829","https://openalex.org/W2017681394","https://openalex.org/W2026919223","https://openalex.org/W2050633666","https://openalex.org/W2054722981","https://openalex.org/W2056059459","https://openalex.org/W2066574980","https://openalex.org/W2068835427","https://openalex.org/W2070215143","https://openalex.org/W2073382625","https://openalex.org/W2077674081","https://openalex.org/W2138270253","https://openalex.org/W2216014112","https://openalex.org/W2326423156","https://openalex.org/W2401248590","https://openalex.org/W2407412522","https://openalex.org/W3140076022"],"related_works":["https://openalex.org/W2077457424","https://openalex.org/W2069149199","https://openalex.org/W2012891737","https://openalex.org/W1986944018","https://openalex.org/W2084443787","https://openalex.org/W1989219296","https://openalex.org/W2034143599","https://openalex.org/W2989988296","https://openalex.org/W7099719016","https://openalex.org/W1963543996"],"abstract_inverted_index":{"Complete":[0],"T4-binding":[1],"globulin":[2],"deficiency":[3],"(TBG-CD)":[4],"is":[5],"inherited":[6],"in":[7,22,29,65,86,99,130,147,171,184,208,220],"an":[8],"X-linked":[9],"fashion.":[10],"A":[11,59],"nucleotide":[12,61,145,163],"substitution":[13],"has":[14,34],"been":[15,36],"shown":[16,194],"to":[17,48,127,195],"cause":[18],"this":[19,144],"hereditary":[20],"condition":[21],"caucasians":[23],"of":[24,69,76,117,136,143,151,181,187],"French":[25],"Canadian":[26],"origin.":[27],"Heterogeneity":[28],"molecular":[30],"mechanisms":[31],"for":[32,72],"TBG-CD":[33,45],"also":[35,206],"reported.":[37],"Genomic":[38],"DNA":[39,55,150,186],"from":[40],"a":[41,84,109,118,154,166],"Japanese":[42,221],"male":[43],"exhibiting":[44],"was":[46,63,157,193,205],"subjected":[47],"polymerase":[49,173],"chain":[50,174],"reaction,":[51],"and":[52,88,113,133,190,199],"the":[53,66,70,77,95,115,131,137,141,148,162,172,179,182,188],"generated":[54],"fragments":[56],"were":[57],"sequenced.":[58],"single":[60],"deletion":[62,146,164],"found":[64],"first":[67],"base":[68],"codon":[71],"amino":[73,103],"acid":[74,111],"352":[75],"common-type":[78,93],"TBG":[79],"molecule.":[80,138],"This":[81,215],"mutation":[82,183,204,216],"causes":[83],"frameshift":[85],"translation":[87],"premature":[89],"termination.":[90],"Compared":[91],"with":[92,161,223],"TBG,":[94],"mutated":[96,155],"polypeptide":[97],"results":[98],"1)":[100],"22":[101],"different":[102],"acids":[104],"on":[105],"its":[106],"carboxy-terminus,":[107],"2)":[108],"22-amino":[110],"truncation,":[112],"3)":[114],"absence":[116],"potential":[119],"N-linked":[120],"glycosylation":[121],"site.":[122],"These":[123],"alterations":[124],"may":[125,217],"lead":[126],"profound":[128],"changes":[129],"secondary":[132],"tertiary":[134],"structures":[135],"To":[139],"ascertain":[140],"presence":[142,180],"genomic":[149,185],"affected":[152],"subjects,":[153],"primer":[156],"designed":[158],"which":[159],"together":[160],"produced":[165],"new":[167],"endonuclease":[168],"restriction":[169],"site":[170],"reaction":[175],"fragment.":[176],"Results":[177],"revealed":[178],"subject,":[189],"his":[191],"mother":[192],"have":[196],"both":[197],"mutant":[198],"normal":[200],"alleles.":[201],"The":[202],"same":[203],"detected":[207],"five":[209],"other":[210],"unrelated":[211],"families":[212],"carrying":[213],"TBG-CD.":[214,224],"be":[218],"frequent":[219],"subjects":[222]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}
