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A Novel TruncatingRs1Mutation Associated With X-Linked Juvenile Retinoschisis

โœ Scribed by Zi-Bing Jin; Nobuhisa Nao-i


Publisher
Springer
Year
2007
Tongue
English
Weight
239 KB
Volume
51
Category
Article
ISSN
0021-5155

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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 1