Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).

We have elucidated the genetic defect in a 66-yr-old patient with fish eye syndrome (FES) presenting with severe corneal opacities and hypoalphalipoproteinemia. The patient's plasma concentration of high density lipoprotein (HDL) cholesterol was reduced at 7.7 mg/dl (35.1-65.3 mg/dl in controls...

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Bibliografiske detaljer
Main Authors: Klein, H G, Lohse, P, Pritchard, P H, Bojanovski, D, Schmidt, H, Brewer, H B
Format: Artigo
Sprog:Inglês
Udgivet: 1992
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC442879/
https://ncbi.nlm.nih.gov/pubmed/1737840
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