Putative protective role of PCSK9 variants in a multigenerational family with familial hypercholesterolemia
Background Familial hypercholesterolemia (FH) is most frequently caused by pathogenic variants in LDLR, but phenotypic variability suggests the influence of genetic modifiers. Methods We investigated a large multigenerational family with FH, combining clinical data, lipid profiles, and genetic analysis with functional...