Article
Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
Current opinion in lipidology - 1 Apr 2017
Dron Jacqueline S, Hegele Robert A
Abstract excerpt
PURPOSE OF REVIEW: There are many reports of human variants in proprotein convertase subtilisin-kexin type 9 (PCSK9) that are either gain-of-function (GOF) or loss-of-function (LOF), with downstream effects on LDL cholesterol and cardiovascular disease (CVD) risk. However, data on particular mechanisms have only been minimally curated. RECENT FINDINGS: GOF variants are individually ultrarare, affect all domains...
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