{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:38:46Z","timestamp":1772120326281,"version":"3.50.1"},"reference-count":19,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["atherosclerosis-journal.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Atherosclerosis"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1016\/j.atherosclerosis.2020.08.002","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T04:46:29Z","timestamp":1598589989000},"page":"37-43","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR)"],"prefix":"10.1016","volume":"311","author":[{"given":"Sonia","family":"Rodr\u00edguez-N\u00f3voa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Rodr\u00edguez-Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concepci\u00f3n","family":"Alonso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lara","family":"Rodriguez-Laguna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7840-3403","authenticated-orcid":false,"given":"Gema","family":"Gordo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor","family":"Martinez-Glez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iluminada","family":"Garc\u00eda Polo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib1","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/nrg.2016.145","article-title":"Mosaicism in health and disease - clones picking up speed","volume":"18","author":"Forsberg","year":"2017","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib2","series-title":"Familial Hypercholesterolemia. The Metabolic and Molecular Bases of Inherited Disease","first-page":"2863","year":"2001"},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib3","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1161\/CIRCULATIONAHA.115.018791","article-title":"Prevalence of familial hypercholesterolemia in the 1999 to 2012 United States national health and nutrition examination surveys (NHANES)","volume":"133","author":"De Ferranti","year":"2016","journal-title":"Circulation"},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib4","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.atherosclerosis.2020.08.002_bib5","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmedgenet-2016-104054","article-title":"The UCL low-density lipoprotein receptor gene variant database: pathogenicity update","volume":"54","author":"Leigh","year":"2017","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib6","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1373\/clinchem.2004.045203","article-title":"Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia","volume":"51","author":"Tejedor","year":"2005","journal-title":"Clin. Chem."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib7","doi-asserted-by":"crossref","first-page":"5454","DOI":"10.1073\/pnas.81.17.5454","article-title":"Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity","volume":"81","author":"Kingsley","year":"1984","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib8","doi-asserted-by":"crossref","first-page":"5607","DOI":"10.1073\/pnas.80.18.5607","article-title":"Amphotericin B selection of mutant Chinese hamster cells with defects in the receptor-mediated endocytosis of low density lipoprotein and cholesterol biosynthesis","volume":"80","author":"Krieger","year":"1983","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib9","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1002\/humu.1380010602","article-title":"Molecular genetics of the LDL receptor gene in familial hypercholesterolemia","volume":"1","author":"Hobbs","year":"1992","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib10","first-page":"1181","article-title":"Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia","volume":"40","author":"Rodriguez-Jimenez","year":"2019","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib11","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/S0022-2275(20)32566-9","article-title":"Human CD36 is a high affinity receptor for the native lipoproteins HDL, LDL, and VLDL","volume":"39","author":"Calvo","year":"1998","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib12","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s00109-005-0019-z","article-title":"Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing","volume":"84","author":"Humphries","year":"2006","journal-title":"J. Mol. Med. (Berl.)"},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib13","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nrg3424","article-title":"A genomic view of mosaicism and human disease","volume":"14","author":"Biesecker","year":"2013","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib14","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/ajmg.a.36836","article-title":"PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation","volume":"167A","author":"Keppler-Noreuil","year":"2015","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib15","doi-asserted-by":"crossref","first-page":"2999","DOI":"10.1093\/eurheartj\/ehw272","article-title":"2016 ESC\/EAS guidelines for the management of dyslipidaemias","volume":"37","author":"Catapano","year":"2016","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib16","doi-asserted-by":"crossref","first-page":"e76","DOI":"10.1093\/nar\/gkx024","article-title":"MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples","volume":"45","author":"Huang","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib17","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1373\/clinchem.2015.249623","article-title":"Systematic evaluation of sanger validation of next-generation sequencing variants","volume":"62","author":"Beck","year":"2016","journal-title":"Clin. Chem."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib18","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1002\/humu.22332","article-title":"Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics","volume":"34","author":"Sikkema-Raddatz","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.atherosclerosis.2020.08.002_bib19","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/gim.2013.183","article-title":"Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory","volume":"16","author":"Strom","year":"2014","journal-title":"Genet. Med."}],"container-title":["Atherosclerosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021915020304317?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021915020304317?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T00:42:50Z","timestamp":1758156170000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021915020304317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":19,"alternative-id":["S0021915020304317"],"URL":"https:\/\/doi.org\/10.1016\/j.atherosclerosis.2020.08.002","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/266874","asserted-by":"object"}]},"ISSN":["0021-9150"],"issn-type":[{"value":"0021-9150","type":"print"}],"subject":[],"published":{"date-parts":[[2020,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR)","name":"articletitle","label":"Article Title"},{"value":"Atherosclerosis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.atherosclerosis.2020.08.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}