Article
Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn).
Journal of lipid research - 1 Jan 1993
Klein H G, Lohse P, Duverger N, Albers J J, Rader D J, Zech L A, Santamarina-Fojo S, Brewer H B
Abstract excerpt
The molecular defects in the lecithin:cholesterol acyltransferase (LCAT) gene have been identified in a 52-year-old patient with classic LCAT deficiency, presenting with corneal clouding and proteinuria. Plasma total cholesterol was normal, triglycerides were elevated, whereas high density lipoprotein (HDL) cholesterol (8 mg/dl) and plasma cholesteryl esters (6% of total cholesterol) were markedly reduced. Plasma...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.