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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Detaylı Bibliyografya
Yayımlandı:J Clin Invest
Asıl Yazarlar: Klein, H G, Santamarina-Fojo, S, Duverger, N, Clerc, M, Dumon, M F, Albers, J J, Marcovina, S, Brewer, H B
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 1993
Konular:
Research Article
Online Erişim: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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