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

Article

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

Nihon rinsho. Japanese journal of clinical medicine - 1 May 1995

Bujo H, Saito Y

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 anemi...

Topics

Corneal Opacity
Genetic Heterogeneity
Humans
Lecithin Cholesterol Acyltransferase Deficiency
Mutation
Phosphatidylcholine-Sterol O-Acyltransferase

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.