Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.

doi:10.1161/ATVBAHA.120.314482

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Article

Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.

Arteriosclerosis, thrombosis, and vascular biology - 1 Feb 2021

Huijgen Roeland, Blom Dirk J, Hartgers Merel L, Chemello Kévin, Benito-Vicente Asier, Uribe Kepa B, Behardien Zorena, Blackhurst Dee M, Brice Brigitte C, Defesche Joep C, de Jong Annemiek G, Jooste Rosemary J, Solomon Gabriele A E, Wolmarans Karen H, Hovingh G Kees, Martin Cesar, Lambert Gilles, Marais A David

Abstract excerpt

OBJECTIVE: Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein-cholesterol and markedly increased cardiovascular risk. In patients with a genetic diagnosis, low-density lipoprotein receptor (LDLR) mutations account for >90% of cases, apolipoprotein B (APOB) mutations for ≈5% of cases, while proprotein convertase subtilisin kexin type 9 (PCSK9) gain of function mutations are...

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PMID: 33147992
DOI: 10.1161/ATVBAHA.120.314482

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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