{"id":"https://openalex.org/W2475596256","doi":"https://doi.org/10.1093/acprof:oso/9780195398441.003.0032","title":"Hereditary hemochromatosis: population screening for gene mutations","display_name":"Hereditary hemochromatosis: population screening for gene mutations","publication_year":2009,"publication_date":"2009-12-18","ids":{"openalex":"https://openalex.org/W2475596256","doi":"https://doi.org/10.1093/acprof:oso/9780195398441.003.0032","mag":"2475596256"},"language":"en","primary_location":{"id":"doi:10.1093/acprof:oso/9780195398441.003.0032","doi":"https://doi.org/10.1093/acprof:oso/9780195398441.003.0032","is_oa":false,"landing_page_url":"https://doi.org/10.1093/acprof:oso/9780195398441.003.0032","pdf_url":null,"source":{"id":"https://openalex.org/S4306463708","display_name":"Oxford University Press eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genome Epidemiology, 2nd Edition","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W1832336036","display_name":"Human Genome Epidemiology, 2nd Edition"},"type":"book-chapter","indexed_in":["crossref"],"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/A5113925640","display_name":"Diana B. Petitti","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Diana B. Petitti","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5113925640"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.27777778,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"639","last_page":"656"},"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/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/hereditary-hemochromatosis","display_name":"hereditary hemochromatosis","score":1.0},{"id":"https://openalex.org/keywords/hfe-mutations","display_name":"HFE gene mutations","score":0.8149999976158142},{"id":"https://openalex.org/keywords/mass-screening","display_name":"mass screening","score":0.9440000057220459},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.5299999713897705},{"id":"https://openalex.org/keywords/high-risk-groups","display_name":"high-risk groups","score":0.8640000224113464},{"id":"https://openalex.org/keywords/genetic-determinants-of-disease","display_name":"genetic determinants of disease","score":0.8640000224113464}],"concepts":[{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.8327949047088623},{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.6904639005661011},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6780694723129272},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5041218996047974},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.40919384360313416},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3917235732078552}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1093/acprof:oso/9780195398441.003.0032","doi":"https://doi.org/10.1093/acprof:oso/9780195398441.003.0032","is_oa":false,"landing_page_url":"https://doi.org/10.1093/acprof:oso/9780195398441.003.0032","pdf_url":null,"source":{"id":"https://openalex.org/S4306463708","display_name":"Oxford University Press eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genome Epidemiology, 2nd Edition","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2155631919","https://openalex.org/W1698550963","https://openalex.org/W7073556897","https://openalex.org/W2418892785","https://openalex.org/W2471682644","https://openalex.org/W2082989469","https://openalex.org/W4296801305","https://openalex.org/W2062651314","https://openalex.org/W2036749153","https://openalex.org/W2058841304"],"abstract_inverted_index":{"Hemochromatosis":[0],"encompasses":[1],"issues":[2],"of":[3,23,32,40,45,49,60,64,78],"importance":[4],"to":[5],"basic":[6],"scientists,":[7],"clinical":[8],"researchers,":[9],"clinicians,":[10],"epidemiologists,":[11],"public":[12],"health":[13,52],"professionals,":[14],"and":[15,28,42,51,74],"policy":[16],"makers.":[17],"Understanding":[18],"its":[19],"history,":[20],"the":[21,29,38,43,46,58,62,75],"evolution":[22],"our":[24],"knowledge":[25],"about":[26],"it,":[27],"current":[30],"state":[31],"knowledge,":[33],"provides":[34],"rich":[35],"insights":[36],"into":[37],"genetics":[39],"disease":[41,50],"complexity":[44],"genetic":[47],"determinants":[48],"in":[53],"humans.":[54],"This":[55],"chapter":[56],"discusses":[57],"discovery":[59],"hemochromatosis,":[61,65,73],"classification":[63],"population":[66],"screening":[67,77],"for":[68],"mutations":[69],"that":[70],"cause":[71],"hereditary":[72],"selective":[76],"high-risk":[79],"groups.":[80]},"counts_by_year":[],"updated_date":"2026-10-10T09:11:00.788812","created_date":"2016-08-23T00:00:00"}
