[Familial LCAT deficiency].

Article

[Familial LCAT deficiency].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1994

Kinoshita M

Abstract excerpt

Familial plasma lecithine: cholesterol acyltransferase (LCAT) deficiency is a disease that is inherited as an autosomal recessing trait. The main clinical abnormalities are corneal opacities, anemia and frequently, though not invariably, proteinuria. These abnormalities result from a failure of L...

Topics

Anemia
Corneal Opacity
Genes, Recessive
Humans
Lecithin Cholesterol Acyltransferase Deficiency
Lipoproteins
Mutation
Phosphatidylcholine-Sterol O-Acyltransferase

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