Article
Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.
Journal of clinical lipidology - 1 Jan 2000
Chokshi Neema, Blumenschein Sarah D, Ahmad Zahid, Garg Abhimanyu
Abstract excerpt
CONTEXT: Type I hyperlipoproteinemia (T1HLP) is a rare, autosomal recessive disorder characterized by extreme hypertriglyceridemia that fails to respond to lipid-lowering agents, predisposing to frequent attacks of acute pancreatitis. Mutations in lipoprotein lipase (LPL), apolipoprotein CII (APOC2), lipase maturation factor 1 (LMF1), glycosyl-phosphatidylinositol anchored high-density lipoprotein-binding protein...
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