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

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

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

2020

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

Objective: Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein-cholesterol and markedly increased cardiovascular risk. In patients with a genetic diagnosis, low-...

Keywords:

Phenotype
Internal medicine
Proprotein convertase
Familial hypercholesterolemia
PCSK9
Subtilisin
Mutation
Endocrinology
Medicine
Cholesterol
Kexin

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