Article
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
Human mutation - 1 Jan 1999
Mashima Y, Shinoda K, Ishida S, Ozawa Y, Kudoh J, Iwata T, Oguchi Y, Shimizu N
Abstract excerpt
The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina. Recent mutation analysis of this gene revealed 82 different mutations in 214 patients with RS. We have now identified 10 mutations of the XLRS1 gene in 11 unrelated Japanese males with RS. Mutations found in these patients were; 1) a...
Topics
- Cell Adhesion
- Chromosome Deletion
- DNA Mutational Analysis
- Exons
- Eye Diseases, Hereditary
- Eye Proteins
- Humans
- Japan
- Male
- Mutation
- Mutation, Missense