Article
Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
Investigative ophthalmology & visual science - 1 May 2004
Ito Sei, Nakamura Makoto, Nuno Yoshihisa, Ohnishi Yoshitaka, Nishida Teruo, Miyake Yozo
Abstract excerpt
PURPOSE: All mutations in the retinal guanylate cyclase gene (GUCY2D) that causes autosomal dominant cone-rod dystrophy (CORD) are associated with an amino acid substitution in codon 838. A novel heterozygous complex missense mutation of I915T and G917R in the GUCY2D gene was found in a Japanese family with autosomal dominant CORD. The clinical features associated with this mutation were described. METHODS: Blood...
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