Article
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
Human mutation - 1 Oct 2001
Wang J, Huff E, Janecka L, Hegele R A
Abstract excerpt
Heterozygous familial hypercholesterolemia (FH) is a relatively common autosomal dominant disorder, which is characterized by elevated plasma concentrations of low density lipoprotein (LDL) cholesterol and early coronary heart disease. FH results from mutations in the gene encoding the LDL receptor (LDLR). In Canada, there is a founder effect for LDLR mutations in FH among individuals of French descent, most of...
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