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Evaluation of the role of STAP1 in Familial Hypercholesterolemia

19 Aug 2019

Abstract excerpt

Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease. The autosomal-dominant FH is mostly caused by mutations in LDLR (low density lipoprotein receptor), APOB (apolipoprotein B), and PCSK9 (proprotein convertase subtilisin/kexin). Recently, STAP1 has been suggested as a fourth causative gene....

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PMID: 31427613
DOI: 10.1038/s41598-019-48402-y

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