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Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in four genes have been reported to cause the classical autosomal-dominant form of the disease. FH is largely under-diagnosed in European countr...

詳細記述

保存先:
書誌詳細
出版年:Eur J Hum Genet
主要な著者: Brænne, Ingrid, Kleinecke, Mariana, Reiz, Benedikt, Graf, Elisabeth, Strom, Tim, Wieland, Thomas, Fischer, Marcus, Kessler, Thorsten, Hengstenberg, Christian, Meitinger, Thomas, Erdmann, Jeanette, Schunkert, Heribert
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4717192/
https://ncbi.nlm.nih.gov/pubmed/26036859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.100
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