{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T14:24:35Z","timestamp":1770906275738,"version":"3.50.1"},"reference-count":13,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","lipidjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Lipidology"],"published-print":{"date-parts":[[2020,7]]},"DOI":"10.1016\/j.jacl.2020.05.007","type":"journal-article","created":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T21:46:56Z","timestamp":1590097616000},"page":"482-486","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580\u00a0G&gt;A: p.(Arg3527Gln)"],"prefix":"10.1016","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5459-6984","authenticated-orcid":false,"given":"Mika","family":"Hori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheol","family":"Son","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masatsune","family":"Ogura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariko","family":"Harada-Shiba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacl.2020.05.007_bib1","doi-asserted-by":"crossref","first-page":"751","DOI":"10.5551\/jat.CR003","article-title":"Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017","volume":"25","author":"Harada-Shiba","year":"2018","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.jacl.2020.05.007_bib2","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1093\/eurheartj\/ehw028","article-title":"Mutations causative of familial hypercholesterolaemia: screening of 98,908 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217","volume":"37","author":"Benn","year":"2016","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacl.2020.05.007_bib3","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1093\/eurheartj\/ehx004","article-title":"Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia","volume":"38","author":"Tada","year":"2017","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacl.2020.05.007_bib4","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1016\/j.jacl.2018.08.006","article-title":"Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease","volume":"12","author":"Tada","year":"2018","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2020.05.007_bib5","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.atherosclerosis.2019.08.004","article-title":"Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients","volume":"289","author":"Hori","year":"2019","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.jacl.2020.05.007_bib6","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/humu.20256","article-title":"Update of the molecular basis of familial hypercholesterolemia in The Netherlands","volume":"26","author":"Fouchier","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jacl.2020.05.007_bib7","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1038\/ng1847","article-title":"Principal components analysis corrects for stratification in genome-wide association studies","volume":"38","author":"Price","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.jacl.2020.05.007_bib8","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1038\/s41439-019-0059-5","article-title":"3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome","volume":"6","author":"Tadaka","year":"2019","journal-title":"Hum Genome Var"},{"key":"10.1016\/j.jacl.2020.05.007_bib9","series-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes","first-page":"531210","author":"Karczewski","year":"2019"},{"key":"10.1016\/j.jacl.2020.05.007_bib10","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1038\/sj.ejhg.5201079","article-title":"Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population","volume":"11","author":"Real","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jacl.2020.05.007_bib11","doi-asserted-by":"crossref","first-page":"3478","DOI":"10.1093\/eurheartj\/eht273","article-title":"Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society","volume":"34","author":"Nordestgaard","year":"2013","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacl.2020.05.007_bib12","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1016\/j.jacl.2016.01.009","article-title":"Genetic diagnosis of familial hypercholesterolemia in Han Chinese","volume":"10","author":"Chiou","year":"2016","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.jacl.2020.05.007_bib13","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1016\/j.jacl.2016.09.009","article-title":"Familial defective apolipoprotein B-100: a review","volume":"10","author":"Andersen","year":"2016","journal-title":"J Clin Lipidol"}],"container-title":["Journal of Clinical Lipidology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287420301057?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1933287420301057?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T13:35:27Z","timestamp":1761831327000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1933287420301057"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["S1933287420301057"],"URL":"https:\/\/doi.org\/10.1016\/j.jacl.2020.05.007","relation":{},"ISSN":["1933-2874"],"issn-type":[{"value":"1933-2874","type":"print"}],"subject":[],"published":{"date-parts":[[2020,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580\u00a0G>A: p.(Arg3527Gln)","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Lipidology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacl.2020.05.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 National Lipid Association. All rights reserved.","name":"copyright","label":"Copyright"}]}}