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Article

ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.

Journal of clinical lipidology - 1 Jan 2000

Reeskamp Laurens F, Volta Andrea, Zuurbier Linda, Defesche Joep C, Hovingh G Kees, Grefhorst Aldo

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a common inherited disease characterized by elevated low-density lipoprotein cholesterol (LDL-C) plasma levels and increased cardiovascular disease risk. Most patients carry a mutation in the low-density lipoprotein receptor gene (LDLR). Common and rare variants in the genes encoding adenosine triphosphate-binding cassette transporters G5 and G8 (ABCG5 and ABCG8)...

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PMID: 32088153
DOI: 10.1016/j.jacl.2020.01.007

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