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Article

Lipoprotein metabolism in familial hypercholesterolemia

1 Jan 2021

Abstract excerpt

Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to premature cardiovascular events. In this review, we discuss the clinical phenotypes of heterozygous and homozygous FH, the genetic variants in four genes (LDLR/APOB/PCSK9/LDLRAP1) underpinning...

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PMID: 33675717
DOI: 10.1016/j.jlr.2021.100062

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