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What Is Familial Hypercholesterolemia, and Why Does It Matter?

作者信息

Khera Amit V, Hegele Robert A

机构信息

Center for Genomic Medicine and Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Boston (A.V.K.).

Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (A.V.K.).

出版信息

Circulation. 2020 Jun 2;141(22):1760-1763. doi: 10.1161/CIRCULATIONAHA.120.046961. Epub 2020 Jun 1.

Abstract
摘要

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本文引用的文献

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Cholesterol-Lowering Agents.
Circ Res. 2019 Feb;124(3):364-385. doi: 10.1161/CIRCRESAHA.118.313238.
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The complex molecular genetics of familial hypercholesterolaemia.
Nat Rev Cardiol. 2019 Jan;16(1):9-20. doi: 10.1038/s41569-018-0052-6.
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Familial hypercholesterolaemia.
Nat Rev Dis Primers. 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93.
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Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
Arterioscler Thromb Vasc Biol. 2016 Dec;36(12):2439-2445. doi: 10.1161/ATVBAHA.116.308027. Epub 2016 Oct 20.
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Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
J Am Coll Cardiol. 2016 Jun 7;67(22):2578-89. doi: 10.1016/j.jacc.2016.03.520. Epub 2016 Apr 3.

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