Article
Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.
Atherosclerosis - 1 Aug 2017
Jiang Long, Benito-Vicente Asier, Tang Ling, Etxebarria Aitor, Cui Wei, Uribe Kepa B, Pan Xiao-Dong, Ostolaza Helena, Yang Shi-Wei, Zhou Yu-Jie, Martin Cesar, Wang Lu-Ya
Abstract excerpt
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 the same chromosome. The aim of this study was to gain...
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