Article
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.
The Journal of clinical investigation - 1 Jul 1993
Klein H G, Santamarina-Fojo S, Duverger N, Clerc M, Dumon M F, Albers J J, Marcovina S, Brewer H B
Abstract excerpt
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...
Topics
- Base Sequence
- Cholesterol Esters
- Eye Diseases
- Female
- Gene Expression
- Genes
- Humans
- Lecithin Cholesterol Acyltransferase Deficiency
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Pedigree
- Phosphatidylcholine-Sterol O-Acyltransferase