{"id":"https://openalex.org/W2019284187","doi":"https://doi.org/10.1007/bf00282822","title":"De novo mutations producing unstable hemoglobins or hemoglobins M","display_name":"De novo mutations producing unstable hemoglobins or hemoglobins M","publication_year":1981,"publication_date":"1981-10-01","ids":{"openalex":"https://openalex.org/W2019284187","doi":"https://doi.org/10.1007/bf00282822","mag":"2019284187","pmid":"https://pubmed.ncbi.nlm.nih.gov/28035506"},"language":"en","primary_location":{"id":"doi:10.1007/bf00282822","doi":"https://doi.org/10.1007/bf00282822","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00282822","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://works.bepress.com/marvin_miller/17","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5105524523","display_name":"George Stamatoyannopoulos","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"G. Stamatoyannopoulos","raw_affiliation_strings":["Department of Medicine, University of Washington, 98195, Seattle, WA, USA","the Center for Inherited Diseases, University of Washington, 98195, Seattle, WA, USA","Department of Medicine, University of Washington, Seattle, USA","the Center for Inherited Diseases, University of Washington, Seattle, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Washington, 98195, Seattle, WA, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"the Center for Inherited Diseases, University of Washington, 98195, Seattle, WA, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Department of Medicine, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"the Center for Inherited Diseases, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111369760","display_name":"Peter E. Nute","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"P. E. Nute","raw_affiliation_strings":["Department of Anthropology, University of Washington, 98195, Seattle, WA, USA","Department of Medicine, University of Washington, 98195, Seattle, WA, USA","the Center for Inherited Diseases, University of Washington, 98195, Seattle, WA, USA","Department of Anthropology, University of Washington, Seattle, USA","Department of Medicine, University of Washington, Seattle, USA","the Center for Inherited Diseases, University of Washington, Seattle, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anthropology, University of Washington, 98195, Seattle, WA, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Department of Medicine, University of Washington, 98195, Seattle, WA, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"the Center for Inherited Diseases, University of Washington, 98195, Seattle, WA, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Department of Anthropology, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Department of Medicine, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"the Center for Inherited Diseases, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"last","author":{"id":null,"display_name":"M. Miller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. Miller","raw_affiliation_strings":["Department of Medicine, University of Washington, 98195, Seattle, WA, USA","the Center for Inherited Diseases, University of Washington, 98195, Seattle, WA, USA","Department of Medicine, University of Washington, Seattle, USA","the Center for Inherited Diseases, University of Washington, Seattle, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Washington, 98195, Seattle, WA, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"the Center for Inherited Diseases, University of Washington, 98195, Seattle, WA, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Department of Medicine, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"the Center for Inherited Diseases, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I201448701"],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":2.0764,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.86355476,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"58","issue":"4","first_page":"396","last_page":"404"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9965999722480774,"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":0.9965999722480774,"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":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.9210000038146973},{"id":"https://openalex.org/keywords/unstable-hemoglobin","display_name":"unstable hemoglobin","score":0.8650000095367432},{"id":"https://openalex.org/keywords/hemoglobin-m","display_name":"hemoglobin M","score":0.8859999775886536},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.7860000133514404},{"id":"https://openalex.org/keywords/parental-age","display_name":"parental age","score":0.7429999709129333},{"id":"https://openalex.org/keywords/advanced-paternal-age","display_name":"advanced paternal age","score":0.7509999871253967},{"id":"https://openalex.org/keywords/methemoglobinemia","display_name":"methemoglobinemia","score":0.8259999752044678},{"id":"https://openalex.org/keywords/hemoglobin-variants","display_name":"hemoglobin variants","score":0.675000011920929},{"id":"https://openalex.org/keywords/pedigree-analysis","display_name":"pedigree analysis","score":0.7080000042915344},{"id":"https://openalex.org/keywords/paternity-testing","display_name":"paternity testing","score":0.6019999980926514}],"concepts":[{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8473231196403503},{"id":"https://openalex.org/C122048520","wikidata":"https://www.wikidata.org/wiki/Q2913954","display_name":"Percentile","level":2,"score":0.7355809807777405},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6373724937438965},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.6350182294845581},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.5293394327163696},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49443674087524414},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.36531561613082886},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2885558009147644},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1971052587032318},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11577117443084717},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.0},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1007/bf00282822","doi":"https://doi.org/10.1007/bf00282822","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00282822","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"pmid:28035506","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28035506","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":"Human genetics","raw_type":"Journal Article"},{"id":"pmid:7327561","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7327561","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":"Human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:corescholar.libraries.wright.edu:pediatrics-1036","doi":null,"is_oa":false,"landing_page_url":"https://corescholar.libraries.wright.edu/pediatrics/37","pdf_url":null,"source":{"id":"https://openalex.org/S4306400146","display_name":"CORE Scholar (Wright State University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I19648265","host_organization_name":"Wright State University","host_organization_lineage":["https://openalex.org/I19648265"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Pediatrics Faculty Publications","raw_type":"text"},{"id":"pmh:oai:works.bepress.com:marvin_miller-1016","doi":null,"is_oa":true,"landing_page_url":"https://works.bepress.com/marvin_miller/17","pdf_url":null,"source":{"id":"https://openalex.org/S2737205702","display_name":"Journal of Bioresource Management","issn_l":"2309-3854","issn":["2309-3854"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","erih-plus"],"host_organization":"https://openalex.org/P4310316536","host_organization_name":"Bioresource Research Center (BRC), Islamabad","host_organization_lineage":["https://openalex.org/P4310316536"],"host_organization_lineage_names":["Bioresource Research Center (BRC), Islamabad"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Marvin E. Miller","raw_type":"text"}],"best_oa_location":{"id":"pmh:oai:works.bepress.com:marvin_miller-1016","doi":null,"is_oa":true,"landing_page_url":"https://works.bepress.com/marvin_miller/17","pdf_url":null,"source":{"id":"https://openalex.org/S2737205702","display_name":"Journal of Bioresource Management","issn_l":"2309-3854","issn":["2309-3854"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","erih-plus"],"host_organization":"https://openalex.org/P4310316536","host_organization_name":"Bioresource Research Center (BRC), Islamabad","host_organization_lineage":["https://openalex.org/P4310316536"],"host_organization_lineage_names":["Bioresource Research Center (BRC), Islamabad"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Marvin E. Miller","raw_type":"text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":55,"referenced_works":["https://openalex.org/W7294994","https://openalex.org/W164726596","https://openalex.org/W222694347","https://openalex.org/W230790764","https://openalex.org/W281011872","https://openalex.org/W322041639","https://openalex.org/W620634213","https://openalex.org/W652898288","https://openalex.org/W1514543027","https://openalex.org/W1982898169","https://openalex.org/W1983211749","https://openalex.org/W1985298926","https://openalex.org/W1986379887","https://openalex.org/W1988506584","https://openalex.org/W1994116045","https://openalex.org/W1994596626","https://openalex.org/W1994698084","https://openalex.org/W1998946839","https://openalex.org/W1999133997","https://openalex.org/W2001663329","https://openalex.org/W2003496691","https://openalex.org/W2008154658","https://openalex.org/W2013653539","https://openalex.org/W2019379633","https://openalex.org/W2040657452","https://openalex.org/W2044374267","https://openalex.org/W2055373079","https://openalex.org/W2057884196","https://openalex.org/W2061750789","https://openalex.org/W2065895929","https://openalex.org/W2067853368","https://openalex.org/W2069817455","https://openalex.org/W2070790868","https://openalex.org/W2074149567","https://openalex.org/W2082768425","https://openalex.org/W2086064293","https://openalex.org/W2088163647","https://openalex.org/W2091473456","https://openalex.org/W2118080400","https://openalex.org/W2118306462","https://openalex.org/W2137354540","https://openalex.org/W2155180960","https://openalex.org/W2156243307","https://openalex.org/W2171304024","https://openalex.org/W2327841904","https://openalex.org/W2339362599","https://openalex.org/W2400663587","https://openalex.org/W2404037088","https://openalex.org/W2404216956","https://openalex.org/W2408760926","https://openalex.org/W2410194130","https://openalex.org/W2411222411","https://openalex.org/W2411323248","https://openalex.org/W2413508435","https://openalex.org/W4253439200"],"related_works":["https://openalex.org/W2011518069","https://openalex.org/W2756712855","https://openalex.org/W2090726899","https://openalex.org/W2789429594","https://openalex.org/W2020331089","https://openalex.org/W2086389108","https://openalex.org/W2783848091","https://openalex.org/W140643057","https://openalex.org/W2559249261","https://openalex.org/W7096191376"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}