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X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?

โœ Scribed by M. Hiraoka; F. Rossi; M. T. Trese; B. S. Shastry


Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
104 KB
Volume
46
Category
Article
ISSN
1435-232X

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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