{"id":"https://openalex.org/W1978969178","doi":"https://doi.org/10.1006/bcmd.1997.0129","title":"Genetic and Clinical Description of Hemochromatosis Probands and Heterozygotes: Evidence That Multiple Genes Linked to the Major Histocompatibility Complex Are Responsible for Hemochromatosis","display_name":"Genetic and Clinical Description of Hemochromatosis Probands and Heterozygotes: Evidence That Multiple Genes Linked to the Major Histocompatibility Complex Are Responsible for Hemochromatosis","publication_year":1997,"publication_date":"1997-04-01","ids":{"openalex":"https://openalex.org/W1978969178","doi":"https://doi.org/10.1006/bcmd.1997.0129","mag":"1978969178","pmid":"https://pubmed.ncbi.nlm.nih.gov/9215758"},"language":"en","primary_location":{"id":"doi:10.1006/bcmd.1997.0129","doi":"https://doi.org/10.1006/bcmd.1997.0129","is_oa":false,"landing_page_url":"https://doi.org/10.1006/bcmd.1997.0129","pdf_url":null,"source":{"id":"https://openalex.org/S183588319","display_name":"Blood Cells Molecules and Diseases","issn_l":"1079-9796","issn":["1079-9796","1096-0961"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Blood Cells, Molecules, and Diseases","raw_type":"journal-article"},"volume":null,"type":"article","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/A5077060961","display_name":"James C. Barton","orcid":"https://orcid.org/0000-0003-2876-8276","observed_orcids":["https://orcid.org/0000-0003-2876-8276"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"James C. Barton","raw_affiliation_strings":["Southern Iron Disorders Center and Brookwood Medical Center, Birmingham, Alabama 35209, USA. ironmd@mem.po.com","Southern Iron Disorders Center and Brookwood Medical Center, Birmingham, Alabama 35209, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Southern Iron Disorders Center and Brookwood Medical Center, Birmingham, Alabama 35209, USA. ironmd@mem.po.com","institution_ids":[]},{"raw_affiliation_string":"Southern Iron Disorders Center and Brookwood Medical Center, Birmingham, Alabama 35209, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102081292","display_name":"Wendy W.H. Shih","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wendy W.H. Shih","raw_affiliation_strings":["Billups-Rothenberg, Inc. San Diego, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Billups-Rothenberg, Inc. San Diego, California","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039066548","display_name":"Ritsuko Sawada-Hirai","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ritsuko Sawada-Hirai","raw_affiliation_strings":["Billups-Rothenberg, Inc. San Diego, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Billups-Rothenberg, Inc. San Diego, California","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111613419","display_name":"Ronald T. Acton","orcid":"https://orcid.org/0000-0002-8586-6887","observed_orcids":["https://orcid.org/0000-0002-8586-6887"]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ronald T. Acton","raw_affiliation_strings":["Immunogenetics Program, Departments of Microbiology, Epidemiology, and Medicine, University of Alabama at Birmingham, Birmingham, Alabama"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunogenetics Program, Departments of Microbiology, Epidemiology, and Medicine, University of Alabama at Birmingham, Birmingham, Alabama","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018722115","display_name":"Leigh Harmon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leigh Harmon","raw_affiliation_strings":["Immunogenetics Program, Departments of Microbiology, Epidemiology, and Medicine, University of Alabama at Birmingham, Birmingham, Alabama"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunogenetics Program, Departments of Microbiology, Epidemiology, and Medicine, University of Alabama at Birmingham, Birmingham, Alabama","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112012757","display_name":"Charles A Rivers","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles Rivers","raw_affiliation_strings":["Immunogenetics Program, Departments of Microbiology, Epidemiology, and Medicine, University of Alabama at Birmingham, Birmingham, Alabama"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunogenetics Program, Departments of Microbiology, Epidemiology, and Medicine, University of Alabama at Birmingham, Birmingham, Alabama","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5057118948","display_name":"Barry E. Rothenberg","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Barry E. Rothenberg","raw_affiliation_strings":["Billups-Rothenberg, Inc. San Diego, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Billups-Rothenberg, Inc. San Diego, California","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4030,"currency":"USD","value_usd":4030},"apc_paid":null,"fwci":12.2897,"has_fulltext":false,"cited_by_count":166,"citation_normalized_percentile":{"value":0.9914307,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"23","issue":"1","first_page":"135","last_page":"145"},"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/T10915","display_name":"Trace Elements in Health","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hemochromatosis","display_name":"hemochromatosis","score":0.9039999842643738},{"id":"https://openalex.org/keywords/hfe-gene","display_name":"HFE gene","score":0.6729999780654907},{"id":"https://openalex.org/keywords/hla-class-i","display_name":"HLA class I","score":0.5210000276565552},{"id":"https://openalex.org/keywords/major-histocompatibility-complex","display_name":"major histocompatibility complex","score":0.8180000185966492},{"id":"https://openalex.org/keywords/iron-overload","display_name":"iron overload","score":0.8730000257492065},{"id":"https://openalex.org/keywords/iron-metabolism","display_name":"iron metabolism","score":0.9020000100135803},{"id":"https://openalex.org/keywords/hla-a3","display_name":"HLA-A3","score":0.5910000205039978},{"id":"https://openalex.org/keywords/hla-b7","display_name":"HLA-B7","score":0.996999979019165},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.5590000152587891}],"concepts":[{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.8451666831970215},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.758195161819458},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.7039121389389038},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5904877185821533},{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.5226321220397949},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5219968557357788},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.505718469619751},{"id":"https://openalex.org/C2777357209","wikidata":"https://www.wikidata.org/wiki/Q3595842","display_name":"Phlebotomy","level":2,"score":0.48331308364868164},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4661259651184082},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.27854228019714355},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2501995265483856},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.23395222425460815},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21403774619102478}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001224","descriptor_name":"Aspartic Acid","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002896","descriptor_name":"Chromosomes, Human, Pair 6","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003545","descriptor_name":"Cysteine","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D005805","descriptor_name":"Genes, MHC Class I","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D006639","descriptor_name":"Histidine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006650","descriptor_name":"Histocompatibility Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006680","descriptor_name":"HLA Antigens","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D007501","descriptor_name":"Iron","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014443","descriptor_name":"Tyrosine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1006/bcmd.1997.0129","doi":"https://doi.org/10.1006/bcmd.1997.0129","is_oa":false,"landing_page_url":"https://doi.org/10.1006/bcmd.1997.0129","pdf_url":null,"source":{"id":"https://openalex.org/S183588319","display_name":"Blood Cells Molecules and Diseases","issn_l":"1079-9796","issn":["1079-9796","1096-0961"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Blood Cells, Molecules, and Diseases","raw_type":"journal-article"},{"id":"pmid:9215758","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9215758","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":"Blood cells, molecules & diseases","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G3841005641","display_name":null,"funder_award_id":"DK32767","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G5299064142","display_name":"PREDICTING GESTATIONAL AND SUBSEQUENT OVERT DIABETES","funder_award_id":"5r01dk032767-14","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320310431","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":40,"referenced_works":["https://openalex.org/W163177553","https://openalex.org/W365679841","https://openalex.org/W1480007741","https://openalex.org/W1525453738","https://openalex.org/W1529983368","https://openalex.org/W1562221129","https://openalex.org/W1563111174","https://openalex.org/W1596378476","https://openalex.org/W1824195683","https://openalex.org/W1967743433","https://openalex.org/W1990055465","https://openalex.org/W1994687637","https://openalex.org/W1999956739","https://openalex.org/W2001124525","https://openalex.org/W2001849995","https://openalex.org/W2002563881","https://openalex.org/W2002605005","https://openalex.org/W2004541671","https://openalex.org/W2017810128","https://openalex.org/W2026223258","https://openalex.org/W2029443758","https://openalex.org/W2030671750","https://openalex.org/W2035064373","https://openalex.org/W2057134026","https://openalex.org/W2063005653","https://openalex.org/W2072222412","https://openalex.org/W2084432680","https://openalex.org/W2086394379","https://openalex.org/W2094556183","https://openalex.org/W2142802999","https://openalex.org/W2143089664","https://openalex.org/W2170463264","https://openalex.org/W2326945383","https://openalex.org/W2335705178","https://openalex.org/W2402695834","https://openalex.org/W2470970830","https://openalex.org/W3007331336","https://openalex.org/W4211080434","https://openalex.org/W4298336755","https://openalex.org/W6638804083"],"related_works":["https://openalex.org/W1931900395","https://openalex.org/W3145763651","https://openalex.org/W2079462639","https://openalex.org/W2409421184","https://openalex.org/W1562221129","https://openalex.org/W112566080","https://openalex.org/W2035790484","https://openalex.org/W2588555915","https://openalex.org/W1971241700","https://openalex.org/W1970975096"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}