{"id":"https://openalex.org/W2000550375","doi":"https://doi.org/10.1038/313325a0","title":"A point mutation in the A\u03b3-globin gene promoter in Greek hereditary persistence of fetal haemoglobin","display_name":"A point mutation in the A\u03b3-globin gene promoter in Greek hereditary persistence of fetal haemoglobin","publication_year":1985,"publication_date":"1985-01-01","ids":{"openalex":"https://openalex.org/W2000550375","doi":"https://doi.org/10.1038/313325a0","mag":"2000550375","pmid":"https://pubmed.ncbi.nlm.nih.gov/2578620"},"language":"en","primary_location":{"id":"doi:10.1038/313325a0","doi":"https://doi.org/10.1038/313325a0","is_oa":false,"landing_page_url":"https://doi.org/10.1038/313325a0","pdf_url":null,"source":{"id":"https://openalex.org/S137773608","display_name":"Nature","issn_l":"0028-0836","issn":["0028-0836","1476-4687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature","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/A5068242165","display_name":"Francis S. Collins","orcid":"https://orcid.org/0000-0002-1023-7410","observed_orcids":["https://orcid.org/0000-0002-1023-7410"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]},{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]},{"id":"https://openalex.org/I4210114445","display_name":"Michigan Medicine","ror":"https://ror.org/01zcpa714","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210114445"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Francis S. Collins","raw_affiliation_strings":["Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA","Departments of Internal Medicine and Human Genetics, University of Michigan Medical School, Ann Arbor, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Departments of Internal Medicine and Human Genetics, University of Michigan Medical School, Ann Arbor, USA","institution_ids":["https://openalex.org/I27837315","https://openalex.org/I4210114445"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062736996","display_name":"James E. Metherall","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James E. Metherall","raw_affiliation_strings":["Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Minoru Yamakawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Minoru Yamakawa","raw_affiliation_strings":["Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110021477","display_name":"Julian Pan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julian Pan","raw_affiliation_strings":["Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112337459","display_name":"Sherman M. Weissman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sherman M. Weissman","raw_affiliation_strings":["Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5077279286","display_name":"Bernard G. Forget","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bernard G. Forget","raw_affiliation_strings":["Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut, 06510, USA","institution_ids":["https://openalex.org/I32971472"]},{"raw_affiliation_string":"Departments of Human Genetics, Internal Medicine, and Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, USA","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":21.7082,"has_fulltext":false,"cited_by_count":178,"citation_normalized_percentile":{"value":0.99811676,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"313","issue":"6000","first_page":"325","last_page":"326"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9984999895095825,"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"}},{"id":"https://openalex.org/T12094","display_name":"Hemoglobin structure and function","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/T10452","display_name":"Iron Metabolism and Disorders","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/point-mutations","display_name":"point mutations","score":0.9789999723434448},{"id":"https://openalex.org/keywords/fetal-hemoglobin","display_name":"fetal hemoglobin","score":0.6759999990463257},{"id":"https://openalex.org/keywords/beta-globin-cluster","display_name":"beta-globin cluster","score":0.7409999966621399},{"id":"https://openalex.org/keywords/ccaat-box","display_name":"CCAAT box","score":0.7089999914169312}],"concepts":[{"id":"https://openalex.org/C2776317666","wikidata":"https://www.wikidata.org/wiki/Q2496436","display_name":"Fetal hemoglobin","level":4,"score":0.6601862907409668},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6592808961868286},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6557667255401611},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.6549763679504395},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6512957215309143},{"id":"https://openalex.org/C125996951","wikidata":"https://www.wikidata.org/wiki/Q412234","display_name":"Globin","level":3,"score":0.6250559687614441},{"id":"https://openalex.org/C36857842","wikidata":"https://www.wikidata.org/wiki/Q1501261","display_name":"Gene cluster","level":3,"score":0.5684857368469238},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.549864649772644},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5211291909217834},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.49557650089263916},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.4310159981250763},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.42494696378707886},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005319","descriptor_name":"Fetal Hemoglobin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005914","descriptor_name":"Globins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006453","descriptor_name":"Hemoglobinopathies","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1038/313325a0","doi":"https://doi.org/10.1038/313325a0","is_oa":false,"landing_page_url":"https://doi.org/10.1038/313325a0","pdf_url":null,"source":{"id":"https://openalex.org/S137773608","display_name":"Nature","issn_l":"0028-0836","issn":["0028-0836","1476-4687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature","raw_type":"journal-article"},{"id":"pmid:2578620","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2578620","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":"Nature","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1170955039","display_name":"CENTER FOR HUMAN GENETICS AND INHERITED DISEASE","funder_award_id":"P50GM032156","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G4343272987","display_name":"CELLULAR AND MOLECULAR ASPECTS OF HEMATOPOIESIS","funder_award_id":"5p01am028376-05","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W45219559","https://openalex.org/W135011187","https://openalex.org/W597006680","https://openalex.org/W1518571278","https://openalex.org/W1520712994","https://openalex.org/W1651799737","https://openalex.org/W1876151628","https://openalex.org/W1969482182","https://openalex.org/W1972240128","https://openalex.org/W1982666619","https://openalex.org/W1988484106","https://openalex.org/W1990045705","https://openalex.org/W1999333401","https://openalex.org/W2017585834","https://openalex.org/W2022603982","https://openalex.org/W2023374624","https://openalex.org/W2048404769","https://openalex.org/W2054073262","https://openalex.org/W2077077811","https://openalex.org/W2082308747","https://openalex.org/W2088331606","https://openalex.org/W2091495486","https://openalex.org/W2105032695","https://openalex.org/W2157589212","https://openalex.org/W2158095716","https://openalex.org/W2163717004","https://openalex.org/W2410394741","https://openalex.org/W4302354217"],"related_works":["https://openalex.org/W2466145709","https://openalex.org/W1988866031","https://openalex.org/W2017585834","https://openalex.org/W2057966354","https://openalex.org/W2022603982","https://openalex.org/W2139911349","https://openalex.org/W2086630704","https://openalex.org/W2244261029","https://openalex.org/W2006415760","https://openalex.org/W2168167512"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":5},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
