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Novel 473-bp deletion inXLRS1gene in a Japanese family with X-linked juvenile retinoschisis

โœ Scribed by Kei Shinoda; Hisao Ohde; Susumu Ishida; Makoto Inoue; Yoshihisa Oguchi; Yukihiko Mashima


Publisher
Springer-Verlag
Year
2004
Tongue
English
Weight
373 KB
Volume
242
Category
Article
ISSN
0065-6100

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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