In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia
Abstract Background Familial hypercholesterolemia (FH) is an inherited disorder with markedly elevated low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic cardiovascular disease.Although many mutations have been reported in FH, only a few have been identified as pathogenic mutations.This study aimed to confirm the pathogenicit