Article
Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers.
The Journal of clinical investigation - 1 Sept 1994
de Knijff P, van den Maagdenberg A M, Boomsma D I, Stalenhoef A F, Smelt A H, Kastelein J J, Marais A D, Frants R R, Havekes L M
Abstract excerpt
Genetic and biochemical studies were carried out in 96 relatives of six independently ascertained probands with familial dysbetalipoproteinemia (FD) carrying the APOE*2 (Lys146-->Gln) allele. Compared to noncarriers, the 40 heterozygous APOE*2 (Lys146-->Gln) allele carriers exhibited markedly increased mean levels of cholesterol and triglyceride in the very low density lipoproteins (VLDL) (1.89 +/- 0.37 vs 0.30...
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