[Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease].

Abstract excerpt

Lecithin: cholesterol acyltransferase (LCAT) is the enzyme that catalyze the esterification of free cholesterol in plasma proteins. The functional abnormalities of LCAT are known to cause two diseases characterized by severe corneal opacity; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, renal failure, and fish eye disease (FED) without any other severe symptoms....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to LCAT gene
• Share to Genetic Heterogeneity
• Share to Mutation