{"id":"https://openalex.org/W1978213921","doi":"https://doi.org/10.1038/jhg.2011.146","title":"Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations","display_name":"Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations","publication_year":2012,"publication_date":"2012-01-12","ids":{"openalex":"https://openalex.org/W1978213921","doi":"https://doi.org/10.1038/jhg.2011.146","mag":"1978213921","pmid":"https://pubmed.ncbi.nlm.nih.gov/22237589"},"language":"en","primary_location":{"id":"doi:10.1038/jhg.2011.146","doi":"https://doi.org/10.1038/jhg.2011.146","is_oa":false,"landing_page_url":"https://doi.org/10.1038/jhg.2011.146","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","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/A5042007045","display_name":"Yen-Hui Chiu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387156312","display_name":"National Yang Ming University","ror":"https://ror.org/009h5ks85","country_code":"TW","type":"education","lineage":["https://openalex.org/I148366613","https://openalex.org/I4387156312"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yen-Hui Chiu","raw_affiliation_strings":["Institute of Genetics, National Yang-Ming University, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics, National Yang-Ming University, Taipei, Taiwan","institution_ids":["https://openalex.org/I4387156312"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111555584","display_name":"Ying-Chen Chang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387156312","display_name":"National Yang Ming University","ror":"https://ror.org/009h5ks85","country_code":"TW","type":"education","lineage":["https://openalex.org/I148366613","https://openalex.org/I4387156312"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Ying-Chen Chang","raw_affiliation_strings":["Genome Research Center, National Yang-Ming University, Taipei, Taiwan","Institute of Genetics, National Yang-Ming University, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Research Center, National Yang-Ming University, Taipei, Taiwan","institution_ids":["https://openalex.org/I4387156312"]},{"raw_affiliation_string":"Institute of Genetics, National Yang-Ming University, Taipei, Taiwan","institution_ids":["https://openalex.org/I4387156312"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100831451","display_name":"Yu-Hsin Chang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387156312","display_name":"National Yang Ming University","ror":"https://ror.org/009h5ks85","country_code":"TW","type":"education","lineage":["https://openalex.org/I148366613","https://openalex.org/I4387156312"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yu-Hsin Chang","raw_affiliation_strings":["Genome Research Center, National Yang-Ming University, Taipei, Taiwan","Institute of Genetics, National Yang-Ming University, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Research Center, National Yang-Ming University, Taipei, Taiwan","institution_ids":["https://openalex.org/I4387156312"]},{"raw_affiliation_string":"Institute of Genetics, National Yang-Ming University, Taipei, Taiwan","institution_ids":["https://openalex.org/I4387156312"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111192415","display_name":"Dau\u2010Ming Niu","orcid":"https://orcid.org/0000-0003-3962-1739","observed_orcids":["https://orcid.org/0000-0003-3962-1739"]},"institutions":[{"id":"https://openalex.org/I2803004286","display_name":"Taipei Veterans General Hospital","ror":"https://ror.org/03ymy8z76","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I2803004286"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Dau-Ming Niu","raw_affiliation_strings":["Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan","institution_ids":["https://openalex.org/I2803004286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102126762","display_name":"Yan-Ling Yang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yan-Ling Yang","raw_affiliation_strings":["Department of Pediatrics, Peking University First Hospital, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Peking University First Hospital, Beijing, China","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100382922","display_name":"Jun Ye","orcid":"https://orcid.org/0000-0002-7958-877X","observed_orcids":["https://orcid.org/0000-0002-7958-877X"]},"institutions":[{"id":"https://openalex.org/I183067930","display_name":"Shanghai Jiao Tong University","ror":"https://ror.org/0220qvk04","country_code":"CN","type":"education","lineage":["https://openalex.org/I183067930"]},{"id":"https://openalex.org/I2801518579","display_name":"XinHua Hospital","ror":"https://ror.org/04dzvks42","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801518579"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jun Ye","raw_affiliation_strings":["The Department of Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Department of Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China","institution_ids":["https://openalex.org/I183067930","https://openalex.org/I2801518579"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028552398","display_name":"Jian\u2010Hui Jiang","orcid":"https://orcid.org/0000-0003-1594-4023","observed_orcids":["https://orcid.org/0000-0003-1594-4023"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jianhui Jiang","raw_affiliation_strings":["Guangzhou Neonatal Screening Center, Maternal and Neonatal Hospital of Guangzhou, Guangzhou, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Guangzhou Neonatal Screening Center, Maternal and Neonatal Hospital of Guangzhou, Guangzhou, China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111524946","display_name":"Yoshiyuki Okano","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I317356780","display_name":"Osaka City University","ror":"https://ror.org/02skfsw40","country_code":"JP","type":"education","lineage":["https://openalex.org/I317356780","https://openalex.org/I4387152983"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshiyuki Okano","raw_affiliation_strings":["Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan","institution_ids":["https://openalex.org/I317356780"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100700014","display_name":"Dong Hwan Lee","orcid":"https://orcid.org/0000-0002-0153-1458","observed_orcids":["https://orcid.org/0000-0002-0153-1458"]},"institutions":[{"id":"https://openalex.org/I2801624344","display_name":"Soonchunhyang University Hospital Seoul","ror":"https://ror.org/05eqxpf83","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I24541011","https://openalex.org/I2801624344","https://openalex.org/I4405258881"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Dong Hwan Lee","raw_affiliation_strings":["Department of Pediatrics, Soonchunhyang University Hospital, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Soonchunhyang University Hospital, Seoul, South Korea","institution_ids":["https://openalex.org/I2801624344"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043067684","display_name":"Suthipong Pangkanon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086785","display_name":"Queen Sirikit National Institute of Child Health","ror":"https://ror.org/000fvwg06","country_code":"TH","type":"healthcare","lineage":["https://openalex.org/I4210086785"]},{"id":"https://openalex.org/I89226531","display_name":"Rangsit University","ror":"https://ror.org/01cqcrc47","country_code":"TH","type":"education","lineage":["https://openalex.org/I89226531"]}],"countries":["TH"],"is_corresponding":false,"raw_author_name":"Suthipong Pangkanon","raw_affiliation_strings":["Department of Pediatrics, Queen Sirikit National Institute of Child Health, College of Medicine, Rangsit University, Bangkok, Thailand"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Queen Sirikit National Institute of Child Health, College of Medicine, Rangsit University, Bangkok, Thailand","institution_ids":["https://openalex.org/I4210086785","https://openalex.org/I89226531"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030767799","display_name":"Chulaluck Kuptanon","orcid":"https://orcid.org/0000-0003-4043-3794","observed_orcids":["https://orcid.org/0000-0003-4043-3794"]},"institutions":[{"id":"https://openalex.org/I1332387789","display_name":"Siriraj Hospital","ror":"https://ror.org/0331zs648","country_code":"TH","type":"healthcare","lineage":["https://openalex.org/I1332387789"]},{"id":"https://openalex.org/I25399158","display_name":"Mahidol University","ror":"https://ror.org/01znkr924","country_code":"TH","type":"education","lineage":["https://openalex.org/I25399158"]}],"countries":["TH"],"is_corresponding":false,"raw_author_name":"Chulaluck Kuptanon","raw_affiliation_strings":["Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand","institution_ids":["https://openalex.org/I1332387789","https://openalex.org/I25399158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080628862","display_name":"Lock Hock Ngu","orcid":"https://orcid.org/0000-0002-2396-1686","observed_orcids":["https://orcid.org/0000-0002-2396-1686"]},"institutions":[{"id":"https://openalex.org/I2799421553","display_name":"Hospital Kuala Lumpur","ror":"https://ror.org/03n0nnh89","country_code":"MY","type":"healthcare","lineage":["https://openalex.org/I2799421553"]}],"countries":["MY"],"is_corresponding":false,"raw_author_name":"Ngu Lock Hock","raw_affiliation_strings":["Paediatric Institute, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Paediatric Institute, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia","institution_ids":["https://openalex.org/I2799421553"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016497484","display_name":"Mary Anne D. Chiong","orcid":"https://orcid.org/0000-0002-1928-3608","observed_orcids":["https://orcid.org/0000-0002-1928-3608"]},"institutions":[{"id":"https://openalex.org/I5791819","display_name":"University of the Philippines Manila","ror":"https://ror.org/01rrczv41","country_code":"PH","type":"education","lineage":["https://openalex.org/I103911934","https://openalex.org/I5791819"]}],"countries":["PH"],"is_corresponding":false,"raw_author_name":"Mary Anne Chiong","raw_affiliation_strings":["Institute of Human Genetics, National Institute of Health, University of the Philippines Manila, Manila, Philippine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, National Institute of Health, University of the Philippines Manila, Manila, Philippine","institution_ids":["https://openalex.org/I5791819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082652264","display_name":"Barbra Charina V. Cavan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Barbra V Cavan","raw_affiliation_strings":["Children\u2019s Clinic and Human Genetics Information Resource Center, Cebu, Philippine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children\u2019s Clinic and Human Genetics Information Resource Center, Cebu, Philippine","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110357951","display_name":"Kwang\u2010Jen Hsiao","orcid":"https://orcid.org/0000-0001-7621-090X","observed_orcids":["https://orcid.org/0000-0001-7621-090X"]},"institutions":[{"id":"https://openalex.org/I3020248675","display_name":"Taipei Municipal YangMing Hospital","ror":"https://ror.org/047n4ns40","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I3020248675"]},{"id":"https://openalex.org/I4210119487","display_name":"Taipei City Hospital","ror":"https://ror.org/02gzfb532","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210119487"]},{"id":"https://openalex.org/I4387156312","display_name":"National Yang Ming University","ror":"https://ror.org/009h5ks85","country_code":"TW","type":"education","lineage":["https://openalex.org/I148366613","https://openalex.org/I4387156312"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Kwang-Jen Hsiao","raw_affiliation_strings":["Department of Education and Research, Taipei City Hospital, Taipei, Taiwan","Institute of Genetics, National Yang-Ming University, Taipei, Taiwan","Preventive Medicine Foundations, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Education and Research, Taipei City Hospital, Taipei, Taiwan","institution_ids":["https://openalex.org/I3020248675","https://openalex.org/I4210119487"]},{"raw_affiliation_string":"Institute of Genetics, National Yang-Ming University, Taipei, Taiwan","institution_ids":["https://openalex.org/I4387156312"]},{"raw_affiliation_string":"Preventive Medicine Foundations, Taipei, Taiwan","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113676688","display_name":"Tze-Tze Liu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3020248675","display_name":"Taipei Municipal YangMing Hospital","ror":"https://ror.org/047n4ns40","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I3020248675"]},{"id":"https://openalex.org/I4210119487","display_name":"Taipei City Hospital","ror":"https://ror.org/02gzfb532","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210119487"]},{"id":"https://openalex.org/I4387156312","display_name":"National Yang Ming University","ror":"https://ror.org/009h5ks85","country_code":"TW","type":"education","lineage":["https://openalex.org/I148366613","https://openalex.org/I4387156312"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Tze-Tze Liu","raw_affiliation_strings":["Department of Education and Research, Taipei City Hospital, Taipei, Taiwan","Genome Research Center, National Yang-Ming University, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Education and Research, Taipei City Hospital, Taipei, Taiwan","institution_ids":["https://openalex.org/I3020248675","https://openalex.org/I4210119487"]},{"raw_affiliation_string":"Genome Research Center, National Yang-Ming University, Taipei, Taiwan","institution_ids":["https://openalex.org/I4387156312"]}]}],"institutions":[],"countries_distinct_count":7,"institutions_distinct_count":15,"corresponding_author_ids":["https://openalex.org/A5113676688"],"corresponding_institution_ids":["https://openalex.org/I3020248675","https://openalex.org/I4210119487","https://openalex.org/I4387156312"],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":1.3686,"has_fulltext":true,"cited_by_count":40,"citation_normalized_percentile":{"value":0.74816924,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"57","issue":"2","first_page":"145","last_page":"152"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9711999893188477,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical 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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9711999893188477,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical 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/T11642","display_name":"Genomics and Rare Diseases","score":0.01730000041425228,"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"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0010999999940395355,"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/6-pyruvoyl-tetrahydropterin-synthase","display_name":"6-pyruvoyl-tetrahydropterin synthase","score":0.9800000190734863},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.8500000238418579},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.8849999904632568},{"id":"https://openalex.org/keywords/tetrahydrobiopterin-biosynthesis","display_name":"tetrahydrobiopterin biosynthesis","score":0.9639999866485596},{"id":"https://openalex.org/keywords/east-asian-populations","display_name":"East Asian populations","score":0.7210000157356262},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.921999990940094},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8730000257492065},{"id":"https://openalex.org/keywords/aromatic-amino-acid-hydroxylases","display_name":"aromatic amino acid hydroxylases","score":0.765999972820282},{"id":"https://openalex.org/keywords/nitric-oxide-synthase-cofactor","display_name":"nitric oxide synthase cofactor","score":0.7390000224113464}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.775992751121521},{"id":"https://openalex.org/C207009774","wikidata":"https://www.wikidata.org/wiki/Q420604","display_name":"Phenylalanine hydroxylase","level":4,"score":0.638809323310852},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6046136617660522},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.5267526507377625},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5150327682495117},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.49092915654182434},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.46032655239105225},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.4525165557861328},{"id":"https://openalex.org/C76775654","wikidata":"https://www.wikidata.org/wiki/Q27231","display_name":"East Asia","level":3,"score":0.44216835498809814},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.40490883588790894},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.3227064907550812},{"id":"https://openalex.org/C191935318","wikidata":"https://www.wikidata.org/wiki/Q148","display_name":"China","level":2,"score":0.16422083973884583},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.08473807573318481},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.07623487710952759},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C166957645","wikidata":"https://www.wikidata.org/wiki/Q23498","display_name":"Archaeology","level":1,"score":0.0},{"id":"https://openalex.org/C2777431362","wikidata":"https://www.wikidata.org/wiki/Q170545","display_name":"Phenylalanine","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005202","descriptor_name":"Asia, Eastern","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":"D006239","descriptor_name":"Haplotypes","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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","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":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019761","descriptor_name":"Phosphorus-Oxygen Lyases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D019761","descriptor_name":"Phosphorus-Oxygen Lyases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/jhg.2011.146","doi":"https://doi.org/10.1038/jhg.2011.146","is_oa":false,"landing_page_url":"https://doi.org/10.1038/jhg.2011.146","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:22237589","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22237589","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":"Journal of human genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"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":[{"id":"https://openalex.org/F4320321040","display_name":"National Science Council","ror":"https://ror.org/02kv4zf79"},{"id":"https://openalex.org/F4320327358","display_name":"Taipei Veterans General Hospital","ror":"https://ror.org/03ymy8z76"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":46,"referenced_works":["https://openalex.org/W113759718","https://openalex.org/W1554927439","https://openalex.org/W1594814080","https://openalex.org/W1973041819","https://openalex.org/W1973777012","https://openalex.org/W1974225453","https://openalex.org/W1983658092","https://openalex.org/W2005076597","https://openalex.org/W2007615385","https://openalex.org/W2009737565","https://openalex.org/W2034105248","https://openalex.org/W2040305771","https://openalex.org/W2040348863","https://openalex.org/W2047820678","https://openalex.org/W2052785045","https://openalex.org/W2054871304","https://openalex.org/W2055846520","https://openalex.org/W2056964383","https://openalex.org/W2068778952","https://openalex.org/W2073611748","https://openalex.org/W2074905732","https://openalex.org/W2078709792","https://openalex.org/W2085249706","https://openalex.org/W2095418236","https://openalex.org/W2097202188","https://openalex.org/W2101878118","https://openalex.org/W2128399345","https://openalex.org/W2129682060","https://openalex.org/W2132434973","https://openalex.org/W2132868312","https://openalex.org/W2134925017","https://openalex.org/W2139231561","https://openalex.org/W2141972699","https://openalex.org/W2147781659","https://openalex.org/W2149901360","https://openalex.org/W2151942251","https://openalex.org/W2157288512","https://openalex.org/W2164180769","https://openalex.org/W2165880814","https://openalex.org/W2246070050","https://openalex.org/W2378466436","https://openalex.org/W2416276657","https://openalex.org/W2421845938","https://openalex.org/W4285719527","https://openalex.org/W7098838276","https://openalex.org/W7099585975"],"related_works":["https://openalex.org/W2088591586","https://openalex.org/W2009737565","https://openalex.org/W2408049385","https://openalex.org/W2068778952","https://openalex.org/W2890275484","https://openalex.org/W1973777012","https://openalex.org/W2890536355","https://openalex.org/W2041653597","https://openalex.org/W2373217003","https://openalex.org/W2052785045"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":4},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}