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
A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis
โ Scribed by Fuu-Jen Tsai; Chi-fan Yang; Jer-Yuarn Wu; Hui-Ju Lin; Cheng-Chun Lee; Chang-Hai Tsai
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 9 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1059-7794
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