Molecular Characterization of Proprotein Convertase Subtilisin/Kexin Type 9 Gene Mutations in Vietnamese Patients with Hypercholesterolemia

Proprotein convertase subtilisin/kexin type 9 (PCSK9) is an enzyme that plays a key role in regulating the circulating low density lipoprotein cholesterol (LDL-C). Among PCSK9 variants, while gain-of-function mutations aggravate degradation of LDL receptors, leading to familial hypercholesterolemia (FH), whereas loss-of-function increase receptor levels, lower and prevent coronary heart disease. The variants have not been clarified Vietnamese pop