Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.

Abstract

BACKGROUND AND AIMS Familial hypercholesterolemia (FH) is an autosomal dominant disease with widespread global prevalence that partially accounts for the high prevalence of premature coronary heart disease. Although the majority of research on FH has focused on single heterozygous LDLR mutations, there have been limited reports of double LDLR mutations on… (More)
DOI: 10.1016/j.atherosclerosis.2017.06.014

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