The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia
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DOI: 10.1186/s12944-021-01536-3
Abstract: Background As an autosomal dominant disorder, familial hypercholesterolemia (FH) is mainly attributed to disease-causing variants in the low-density lipoprotein receptor ( LDLR ) gene. The aim of this study was to explore the molecular mechanism of… read more here.
Keywords: disease causing; pcsk9 inhibitor; 501c variant; treatment ... See more keywords