Article
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.
Science (New York, N.Y.) - 1 Dec 2000
Berge K E, Tian H, Graf G A, Yu L, Grishin N V, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs H H
Abstract excerpt
In healthy individuals, acute changes in cholesterol intake produce modest changes in plasma cholesterol levels. A striking exception occurs in sitosterolemia, an autosomal recessive disorder characterized by increased intestinal absorption and decreased biliary excretion of dietary sterols, hypercholesterolemia, and premature coronary atherosclerosis. We identified seven different mutations in two adjacent,...
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