Article
A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology - 1 Nov 1999
Wittekoek M E, Moll E, Pimstone S N, Trip M D, Lansberg P J, Defesche J C, van Doormaal J J, Hayden M R, Kastelein J J
Abstract excerpt
The D9N substitution is a common mutation in the lipoprotein lipase (LPL) gene. This mutation has been associated with reduced levels of HDL cholesterol and elevated triglycerides (TG) in a wide variety of patients. We investigated the influence of this D9N mutation on lipid and lipoprotein levels and risk for cardiovascular disease (CVD) in patients with familial hypercholesterolemia (FH). A total of 2091 FH...
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