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Japanese juvenile retinoschisis is caused by mutations of theXLRS1gene

✍ Scribed by Y. Hotta; Keiko Fujiki; Mutsuko Hayakawa; Takashi Ohta; Takuro Fujimaki; Kouichi Tamaki; Toshiyuki Yokoyama; Atsushi Kanai; Akito Hirakata; Tetsuo Hida; Sachiko Nishina; Noriyuki Azuma

Book ID: 105746024
Publisher: Springer
Year: 1998
Tongue: English
Weight: 64 KB
Volume: 103
Category: Article
ISSN: 0340-6717
DOI: 10.1007/pl00008705

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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