[Molecular defects in familial LCAT deficiency].

Abstract excerpt

Lecithin: cholesterol acyltransferase (LCAT) is the enzyme that catalyzes the esterification of free cholesterol in plasma lipoproteins. Familial LCAT deficiency, which is a rare hereditary disorder of lipid metabolism, inherited as an autosomal recessive trait, is characterized by corneal opacity, anemia and frequently, though not invariably, renal failure. Recently, LCAT cDNA and gene have been cloned. Studies...

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