Article
Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides.
Clinical genetics - 1 Feb 2001
Samuels M E, Forbey K C, Reid J E, Abkevich V, Bulka K, Wardell B R, Bowen B R, Hopkins P N, Hunt S C, Ballinger D G, Skolnick M H, Wagner S
Abstract excerpt
Defects in the lipoprotein lipase (LPL) gene are associated with dyslipidemia in the general population. Several rare mutations in the gene, as well as two common coding region polymorphisms, D9N and N291S, exhibit deleterious effects on circulating lipid levels. Using a linkage-based approach, we have identified a large Utah kindred segregating the D9N variant in the LPL gene. The kindred was ascertained for...
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