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Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis

โœ Scribed by Saleheen, Danish; Ali, Azam; Khanum, Shaheen; Ozair, Mohammad Z.; Zaidi, Moazzam; Sethi, Muhammad J.; Khan, Nadir; Frossard, Philippe


Book ID
122516904
Publisher
Canadian Ophthalmological Society
Year
2008
Tongue
English
Weight
292 KB
Volume
43
Category
Article
ISSN
0008-4182

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โœ Yukihiko Mashima; Kei Shinoda; Susumu Ishida; Yoko Ozawa; Jun Kudoh; Takeshi Iwa ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 21 KB ๐Ÿ‘ 2 views

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