Genetic analysis of Iranian patients with familial hypercholesterolemia

ABSTRACT

Background: Familial hypercholesterolemia [FH] is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor [LDLR], apolipoprotein B 100 [APOB], and proprotein convertase subtilisin/kexin type 9 [PCSK9] genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population