The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population - Hooper, Amanda J.; Marais, A. David; Tanyanyiwa, Donald M.; Burnett, John R. (Atherosclerosis, 2007)
Keywords: Adult; Atherosclerosis (general aspects, experimental research); Biological and medical sciences; Blood and lymphatic vessels; Brain; Cardiology. Vascular system; Cardiovascular; Cholesterol; Cholesterol, LDL - blood; Cholesterol, LDL - genetics; Codon, Nonsense; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; Female; Genetic Predisposition to Disease; Genotype; Humans; Hyperlipoproteinemia Type II - blood; Hyperlipoproteinemia Type II - genetics; Investigative techniques of hemodynamics; Investigative techniques, diagnostic techniques (general aspects); Medical sciences; Mutation; Nonsense; PCSK9; Proprotein Convertase 9; Proprotein Convertases; Serine Endopeptidases - genetics; Zimbabwe; PCSK9; Nonsense; Mutation; Cholesterol; Cardiovascular disease; Lipids; Hyperlipoproteinemia; Vascular disease; Lipoprotein LDL; Missense mutation; Atherosclerosis; Dyslipemia; Human; Serine endopeptidases; Enzyme; Negroid; Metabolic diseases; Cholesterol LDL; Genotype; Subtilisin; Genetic disease; Peptidases; Hypercholesterolemia; Kexin; Hydrolases; Comparative study; African American