Journal of Lipid Research, Vol 31, 1337-1349, Copyright © 1990 by Lipid Research, Inc.

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Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia

TL Innerarity, RW Mahley, KH Weisgraber, TP Bersot, RM Krauss, GL Vega, SM Grundy, W Friedl, J Davignon and BJ McCarthy
Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608.

Familial defective apolipoprotein B-100 is a genetic disorder of apolipoprotein B-100 that causes moderate to severe hypercholesterolemia. A single amino acid mutation in apolipoprotein B diminishes the ability of low density lipoproteins to bind to the low density lipoprotein receptor. Low density lipoproteins accumulate in the plasma because their efficient receptor-mediated catabolism is disrupted. This mutation has been identified in the United States, Canada, and Europe and is estimated to occur at a frequency of approximately 1/500 in these populations. Thus, it appears that this newly described disorder may be a significant genetic cause of hypercholesterolemia in Western societies.
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