Article
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.
Clinical genetics - 1 Jun 2008
Defesche J C, Schuurman E J M, Klaaijsen L N, Khoo K L, Wiegman A, Stalenhoef A F H
Abstract excerpt
In a large group of patients with the clinical phenotype of familial hypercholesterolemia, such as elevated low-density lipoprotein (LDL) cholesterol and premature atherosclerosis, but without functional mutations in the genes coding for the LDL receptor and apolipoprotein B, we examined the effect of 128 seemingly neutral exonic and intronic DNA variants, discovered by routine sequencing of these genes. Two...
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