Article
Compound heterozygotes for a novel mutation, apo E1 Nagoya (Arg142Ser) and Apo E2 (Arg158Cys), with severe type III hyperlipoproteinemia and familial hypercholesterolemia.
Journal of atherosclerosis and thrombosis - 1 Jan 2014
Sakuma Nagahiko, Hibino Takeshi, Saeki Tomoaki, Nagata Takahiro, Sato Toru, Okuda Noriaki, Matsunaga Akira, Sasaki Jun
Abstract excerpt
AIM: A patient with severe type III hyperlipoproteinemia and familial hypercholesterolemia (FH) was previously reported (Metabolism, 44,1995:460-465). In the current study, the patient's apolipoprotein (apo) E gene was analyzed. METHODS: An apo E isoform analysis was performed using isoelectric focusing and immunoblotting. In addition, after DNA preparation, a restriction fragment length polymorphism analysis and...
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