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You are here: Home :: Keyword index :: com bis DIC :: copy number variants (CNVs) - coronary sinus corneal opacity

Items for "corneal opacity"

A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency

Background: The lecithin:cholesterol acyltransferase (LCAT) gene is located on the long arm of chromosome 16 and encodes a highly conserved enzyme that catalyzes the formation of most plasma lipoprotein cholesteryl esters...

Keywords: chromosome 16, corneal opacity, LCAT deficiency, LCAT gene mutation, lecithin:cholesterol acyltransferase (LCAT), renal failure

04/2007 | Clinical Chemical Laboratory Medicine, Walter de Gruyter