Article
Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology - 1 Oct 1995
Pimstone S N, Gagné S E, Gagné C, Lupien P J, Gaudet D, Williams R R, Kotze M, Reymer P W, Defesche J C, Kastelein J J
Abstract excerpt
Familial hypercholesterolemia (FH) is characterized by elevated plasma concentrations of LDL cholesterol resulting from mutations in the gene for the LDL receptor. Low HDL cholesterol levels are seen frequently in patients both heterozygous and homozygous for mutations in this gene. Suggested mechanisms for reduced HDL levels in FH patients have been altered apolipoprotein A-1 metabolism and elevated cholesteryl...
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