A unique genetic and biochemical presentation of fish-eye disease.

This paper describes a novel genetic defect which causes fish-eye disease in four homozygous probands and its biochemical presentation in 34 heterozygous siblings. The male index patient presented with premature coronary artery disease, corneal opacification, HDL deficiency, and a near total loss of...

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Bibliografiske detaljer
Main Authors: Kuivenhoven, J A, van Voorst tot Voorst, E J, Wiebusch, H, Marcovina, S M, Funke, H, Assmann, G, Pritchard, P H, Kastelein, J J
Format: Artigo
Sprog:Inglês
Udgivet: 1995
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC185988/
https://ncbi.nlm.nih.gov/pubmed/8675648
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