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Article

Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia

6 Sept 2022

Abstract excerpt

Background: Atherosclerotic cardiovascular disease is the main cause of mortality worldwide and is strongly influenced by circulating low-density lipoprotein (LDL) cholesterol levels. Only a few genes causally related to plasma LDL cholesterol levels have been identified so far, and only 1 gene, ANGPTL3 , has been causally related to combined hypocholesterolemia. Here, our aim was to elucidate the genetic origin...

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Share to Diabetes, Cardiovascular Risks, and Lipoproteins
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PMID: 35899625
DOI: 10.1161/circulationaha.121.057978

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