Article
Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jan 2000
Myant N B, Gallagher J J, Knight B L, McCarthy S N, Frostegård J, Nilsson J, Hamsten A, Talmud P, Humphries S E
Abstract excerpt
In a previous study (Tybjaerg-Hansen et al, Atherosclerosis 1990;80:235-242), we identified nine patients heterozygous for the apolipoprotein B (apo B) arginine-to-glutamine (Arg3,500----Gln) mutation (familial defective apolipoprotein B-100 [FDB]). Six of these had been diagnosed clinically as familial hypercholesterolemic (FH) heterozygotes. We have since examined low density lipoprotein (LDL) receptor function...
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