{"id":"https://openalex.org/W2013566167","doi":"https://doi.org/10.1016/s0016-5085(99)70505-6","title":"A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote\u2606","display_name":"A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote\u2606","publication_year":1999,"publication_date":"1999-06-01","ids":{"openalex":"https://openalex.org/W2013566167","doi":"https://doi.org/10.1016/s0016-5085(99)70505-6","mag":"2013566167","pmid":"https://pubmed.ncbi.nlm.nih.gov/10348824"},"language":"en","primary_location":{"id":"doi:10.1016/s0016-5085(99)70505-6","doi":"https://doi.org/10.1016/s0016-5085(99)70505-6","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0016-5085(99)70505-6","pdf_url":"http://www.gastrojournal.org/article/S0016508599705056/pdf","source":{"id":"https://openalex.org/S143352558","display_name":"Gastroenterology","issn_l":"0016-5085","issn":["0016-5085","1528-0012"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gastroenterology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.gastrojournal.org/article/S0016508599705056/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"D WALLACE","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801138448","display_name":"The Royal Free Hospital","ror":"https://ror.org/01ge67z96","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I169248724","https://openalex.org/I2801138448"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"D WALLACE","raw_affiliation_strings":["Centre for Hepatology, Department of Medicine, Royal Free and University College Medical School, University College London, Royal Free Campus, London, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Hepatology, Department of Medicine, Royal Free and University College Medical School, University College London, Royal Free Campus, London, England","institution_ids":["https://openalex.org/I2801138448","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022616207","display_name":"James S. Dooley","orcid":"https://orcid.org/0000-0002-9459-5572","observed_orcids":["https://orcid.org/0000-0002-9459-5572"]},"institutions":[{"id":"https://openalex.org/I2801138448","display_name":"The Royal Free Hospital","ror":"https://ror.org/01ge67z96","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I169248724","https://openalex.org/I2801138448"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"J DOOLEY","raw_affiliation_strings":["Centre for Hepatology, Department of Medicine, Royal Free and University College Medical School, University College London, Royal Free Campus, London, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Hepatology, Department of Medicine, Royal Free and University College Medical School, University College London, Royal Free Campus, London, England","institution_ids":["https://openalex.org/I2801138448","https://openalex.org/I45129253"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5003348266","display_name":"Ann P. Walker","orcid":"https://orcid.org/0000-0002-8485-3494","observed_orcids":["https://orcid.org/0000-0002-8485-3494"]},"institutions":[{"id":"https://openalex.org/I2801138448","display_name":"The Royal Free Hospital","ror":"https://ror.org/01ge67z96","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I169248724","https://openalex.org/I2801138448"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A WALKER","raw_affiliation_strings":["Centre for Hepatology, Department of Medicine, Royal Free and University College Medical School, University College London, Royal Free Campus, London, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Hepatology, Department of Medicine, Royal Free and University College Medical School, University College London, Royal Free Campus, London, England","institution_ids":["https://openalex.org/I2801138448","https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4180,"currency":"USD","value_usd":4180},"apc_paid":null,"fwci":12.9623,"has_fulltext":true,"cited_by_count":126,"citation_normalized_percentile":{"value":0.99279155,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"116","issue":"6","first_page":"1409","last_page":"1412"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10452","display_name":"Iron Metabolism and Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T13481","display_name":"Neurological diseases and metabolism","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/hereditary-hemochromatosis","display_name":"hereditary hemochromatosis","score":0.890999972820282},{"id":"https://openalex.org/keywords/hfe-gene","display_name":"HFE gene","score":0.9769999980926514},{"id":"https://openalex.org/keywords/c282y-mutation","display_name":"C282Y mutation","score":0.8870000243186951},{"id":"https://openalex.org/keywords/novel-splice-site-mutation","display_name":"novel splice site mutation","score":0.9039999842643738},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9319999814033508},{"id":"https://openalex.org/keywords/iron-overload","display_name":"iron overload","score":0.7670000195503235},{"id":"https://openalex.org/keywords/rna-splicing","display_name":"RNA splicing","score":0.7350000143051147},{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.9259999990463257},{"id":"https://openalex.org/keywords/h63d-mutation","display_name":"H63D mutation","score":0.878000020980835},{"id":"https://openalex.org/keywords/s65c-mutation","display_name":"S65C mutation","score":0.8949999809265137},{"id":"https://openalex.org/keywords/serum-ferritin","display_name":"serum ferritin","score":0.8769999742507935},{"id":"https://openalex.org/keywords/transferrin-saturation","display_name":"transferrin saturation","score":0.9990000128746033}],"concepts":[{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.8557583093643188},{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.8264299035072327},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.6869275569915771},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6220587491989136},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5723589062690735},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5442276000976562},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5058919787406921},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4946708381175995},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48969247937202454},{"id":"https://openalex.org/C153852466","wikidata":"https://www.wikidata.org/wiki/Q907072","display_name":"Transferrin saturation","level":4,"score":0.425700843334198},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.387824147939682},{"id":"https://openalex.org/C2778319317","wikidata":"https://www.wikidata.org/wiki/Q22327449","display_name":"Ferritin","level":2,"score":0.3213924169540405},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2606542408466339},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C3019184707","wikidata":"https://www.wikidata.org/wiki/Q22327449","display_name":"Serum ferritin","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000071020","descriptor_name":"Hemochromatosis Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004274","descriptor_name":"DNA, Recombinant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006680","descriptor_name":"HLA Antigens","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015395","descriptor_name":"Histocompatibility Antigens Class I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1016/s0016-5085(99)70505-6","doi":"https://doi.org/10.1016/s0016-5085(99)70505-6","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0016-5085(99)70505-6","pdf_url":"http://www.gastrojournal.org/article/S0016508599705056/pdf","source":{"id":"https://openalex.org/S143352558","display_name":"Gastroenterology","issn_l":"0016-5085","issn":["0016-5085","1528-0012"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gastroenterology","raw_type":"journal-article"},{"id":"pmid:10348824","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10348824","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":"Gastroenterology","raw_type":"Case Reports"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:104838","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/104838/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"GASTROENTEROLOGY , 116 (6) 1409 - 1412. (1999)","raw_type":"Article"},{"id":"mag:2614137715","doi":null,"is_oa":false,"landing_page_url":"https://eprints.qut.edu.au/105909/","pdf_url":null,"source":{"id":"https://openalex.org/S4306510308","display_name":"Faculty of Health; Institute of Health and Biomedical Innovation","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Faculty of Health; Institute of Health and Biomedical Innovation","raw_type":null}],"best_oa_location":{"id":"doi:10.1016/s0016-5085(99)70505-6","doi":"https://doi.org/10.1016/s0016-5085(99)70505-6","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0016-5085(99)70505-6","pdf_url":"http://www.gastrojournal.org/article/S0016508599705056/pdf","source":{"id":"https://openalex.org/S143352558","display_name":"Gastroenterology","issn_l":"0016-5085","issn":["0016-5085","1528-0012"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gastroenterology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8371999859809875}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2013566167.pdf","grobid_xml":"https://content.openalex.org/works/W2013566167.grobid-xml"},"referenced_works_count":17,"referenced_works":["https://openalex.org/W1483242733","https://openalex.org/W1803426045","https://openalex.org/W1965051773","https://openalex.org/W1983954245","https://openalex.org/W1991167271","https://openalex.org/W1999697457","https://openalex.org/W2002605005","https://openalex.org/W2026548394","https://openalex.org/W2098058233","https://openalex.org/W2141937988","https://openalex.org/W2143716524","https://openalex.org/W2149010179","https://openalex.org/W2335705178","https://openalex.org/W2415185741","https://openalex.org/W2734659047","https://openalex.org/W4255882238","https://openalex.org/W6681726143"],"related_works":["https://openalex.org/W2592523908","https://openalex.org/W2135035207","https://openalex.org/W6983701362","https://openalex.org/W2017842892","https://openalex.org/W2098718533","https://openalex.org/W2012640894","https://openalex.org/W2046484014","https://openalex.org/W2060434988","https://openalex.org/W2085284338","https://openalex.org/W2051011125"],"abstract_inverted_index":null,"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}