{"id":"https://openalex.org/W2149406240","doi":"https://doi.org/10.1182/blood.v93.8.2502","title":"HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis","display_name":"HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis","publication_year":1999,"publication_date":"1999-04-15","ids":{"openalex":"https://openalex.org/W2149406240","doi":"https://doi.org/10.1182/blood.v93.8.2502","mag":"2149406240","pmid":"https://pubmed.ncbi.nlm.nih.gov/10194428"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v93.8.2502","doi":"https://doi.org/10.1182/blood.v93.8.2502","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v93.8.2502","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"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":"Blood","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/A5036168448","display_name":"Catherine Mura","orcid":"https://orcid.org/0000-0002-8414-1139","observed_orcids":["https://orcid.org/0000-0002-8414-1139"]},"institutions":[{"id":"https://openalex.org/I161929037","display_name":"Universit\u00e9 de Bretagne Occidentale","ror":"https://ror.org/01b8h3982","country_code":"FR","type":"education","lineage":["https://openalex.org/I161929037","https://openalex.org/I4405260085"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Catherine Mura","raw_affiliation_strings":["From the Centre de Bioge\u0301ne\u0301tique, ETSBO, CHU, UBO, BP454, Brest, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Centre de Bioge\u0301ne\u0301tique, ETSBO, CHU, UBO, BP454, Brest, France","institution_ids":["https://openalex.org/I161929037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009777335","display_name":"Odile Ragu\u00e9n\u00e8s","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161929037","display_name":"Universit\u00e9 de Bretagne Occidentale","ror":"https://ror.org/01b8h3982","country_code":"FR","type":"education","lineage":["https://openalex.org/I161929037","https://openalex.org/I4405260085"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Odile Raguenes","raw_affiliation_strings":["From the Centre de Bioge\u0301ne\u0301tique, ETSBO, CHU, UBO, BP454, Brest, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Centre de Bioge\u0301ne\u0301tique, ETSBO, CHU, UBO, BP454, Brest, France","institution_ids":["https://openalex.org/I161929037"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066521398","display_name":"Claude F\u00e9rec","orcid":"https://orcid.org/0000-0002-2325-0710","observed_orcids":["https://orcid.org/0000-0002-2325-0710"]},"institutions":[{"id":"https://openalex.org/I161929037","display_name":"Universit\u00e9 de Bretagne Occidentale","ror":"https://ror.org/01b8h3982","country_code":"FR","type":"education","lineage":["https://openalex.org/I161929037","https://openalex.org/I4405260085"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Claude Fe\u0301rec","raw_affiliation_strings":["From the Centre de Bioge\u0301ne\u0301tique, ETSBO, CHU, UBO, BP454, Brest, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Centre de Bioge\u0301ne\u0301tique, ETSBO, CHU, UBO, BP454, Brest, France","institution_ids":["https://openalex.org/I161929037"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I161929037"],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":26.2745,"has_fulltext":false,"cited_by_count":402,"citation_normalized_percentile":{"value":0.99840366,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"93","issue":"8","first_page":"2502","last_page":"2505"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":1.0,"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":1.0,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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":0.9990000128746033},{"id":"https://openalex.org/keywords/hfe-gene","display_name":"HFE gene","score":0.9629999995231628},{"id":"https://openalex.org/keywords/s65c-mutation","display_name":"S65C mutation","score":0.7870000004768372},{"id":"https://openalex.org/keywords/c282y-mutation","display_name":"C282Y mutation","score":0.9240000247955322},{"id":"https://openalex.org/keywords/h63d-mutation","display_name":"H63D mutation","score":1.0},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9100000262260437},{"id":"https://openalex.org/keywords/iron-metabolism","display_name":"iron metabolism","score":0.7549999952316284},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.4880000054836273},{"id":"https://openalex.org/keywords/mutation-frequency","display_name":"mutation frequency","score":0.3919999897480011}],"concepts":[{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.8114447593688965},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7613526582717896},{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.7199752330780029},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6463396549224854},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.5643294453620911},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4597163200378418},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3517908751964569},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2167123258113861}],"mesh":[{"descriptor_ui":"D000071020","descriptor_name":"Hemochromatosis Protein","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":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"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":"D008285","descriptor_name":"Major Histocompatibility Complex","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":"D012016","descriptor_name":"Reference Values","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015183","descriptor_name":"Restriction Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015395","descriptor_name":"Histocompatibility Antigens Class I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1182/blood.v93.8.2502","doi":"https://doi.org/10.1182/blood.v93.8.2502","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v93.8.2502","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"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":"Blood","raw_type":"journal-article"},{"id":"doi:10.1182/blood.v93.8.2502.408k27_2502_2505","doi":"https://doi.org/10.1182/blood.v93.8.2502.408k27_2502_2505","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v93.8.2502.408k27_2502_2505","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"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":"Blood","raw_type":"journal-article"},{"id":"pmid:10194428","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10194428","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","raw_type":"Journal Article"},{"id":"mag:2551497228","doi":null,"is_oa":false,"landing_page_url":"http://www.bloodjournal.org/content/bloodjournal/93/8/2502.full.pdf?sso-checked=true","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W173213029","https://openalex.org/W1562221129","https://openalex.org/W1596378476","https://openalex.org/W1970097714","https://openalex.org/W1993899490","https://openalex.org/W1997462858","https://openalex.org/W2002605005","https://openalex.org/W2011254325","https://openalex.org/W2028107207","https://openalex.org/W2038944724","https://openalex.org/W2039312022","https://openalex.org/W2042723976","https://openalex.org/W2063005653","https://openalex.org/W2080638597","https://openalex.org/W2083477710","https://openalex.org/W2084392781","https://openalex.org/W2141937988","https://openalex.org/W2143716524","https://openalex.org/W2145306168","https://openalex.org/W2147487590","https://openalex.org/W2335705178"],"related_works":["https://openalex.org/W2551497228","https://openalex.org/W2030179617","https://openalex.org/W2033774133","https://openalex.org/W2188153760","https://openalex.org/W130984424","https://openalex.org/W2173001239","https://openalex.org/W2974004972","https://openalex.org/W2135377350","https://openalex.org/W1969385146","https://openalex.org/W112566080"],"abstract_inverted_index":{"Hereditary":[0],"hemochromatosis":[1],"(HH)":[2],"is":[3,48,178],"a":[4,51,85],"common":[5],"autosomal":[6],"recessive":[7],"genetic":[8],"disorder":[9],"of":[10,42,54,61,71,88,109,118,157,168,184],"iron":[11],"metabolism.":[12],"The":[13,92],"HFE":[14],"candidate":[15],"gene":[16],"encoding":[17],"an":[18,149],"HLA":[19],"class":[20],"I-like":[21],"protein":[22],"involved":[23,103],"in":[24,28,84,104,141],"HH":[25,43,63,120,158,171],"was":[26,99,138],"identified":[27],"1996.":[29],"Two":[30],"missense":[31,82],"mutations":[32],"have":[33],"been":[34],"described:":[35],"C282Y,":[36,72],"accounting":[37,106],"for":[38,107,155],"80%":[39],"to":[40,59,79],"90%":[41],"chromosomes,":[44,111],"and":[45,74,90],"H63D,":[46,73],"which":[47],"associated":[49,179],"with":[50,143,180],"milder":[52],"form":[53,183],"the":[55,69,75,80,96,100,113,119,126,135,175,181],"disease":[56],"representing":[57],"40%":[58],"70%":[60],"non-C282Y":[62],"chromosomes.":[64],"We":[65],"report":[66],"here":[67],"on":[68],"analysis":[70],"193A-->T":[76],"substitution":[77,83,98,115,137,153,177],"leading":[78],"S65C":[81,136,169,176],"large":[86],"series":[87],"probands":[89,142],"controls.":[91],"results":[93],"confirm":[94],"that":[95,122,134,160,174],"C282Y":[97,127,163],"main":[101],"mutation":[102],"hemochromatosis,":[105],"85%":[108],"carrier":[110],"whereas":[112],"H63D":[114],"represented":[116],"39%":[117],"chromosomes":[121,159,172],"did":[123],"not":[124],"carry":[125],"mutation.":[128,151],"In":[129],"addition,":[130],"our":[131],"screening":[132],"showed":[133],"significantly":[139],"enriched":[140],"at":[144],"least":[145],"one":[146],"chromosome":[147],"without":[148],"assigned":[150],"This":[152,166],"accounted":[154],"7.8%":[156],"were":[161],"neither":[162],"nor":[164],"H63D.":[165],"enrichment":[167],"among":[170],"suggests":[173],"mild":[182],"hemochromatosis.":[185]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":15},{"year":2012,"cited_by_count":11}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}