Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.

We have identified the molecular defect in two siblings presenting with classical clinical and biochemical features of Fish Eye disease (FED), including corneal opacities, HDL cholesterol < 10 mg/dl, normal plasma cholesteryl esters, and elevated triglycerides. In contrast to previously reported...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Klein, H G, Santamarina-Fojo, S, Duverger, N, Clerc, M, Dumon, M F, Albers, J J, Marcovina, S, Brewer, H B
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC293635/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8326012/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116591
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