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Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis

Gehrig, A. E. ; White, K. ; Lorenz, B. ; Adrassi, M. ; Clemens, S. ; Weber, Bernhard H. F.



Abstract

The RS1 gene is the causative gene in X-linked juvenile retinoschisis (RS). We have screened this gene for mutations in 13 patients with RS and in 7 probands with senile retinoschisis, a sporadic, later-onset form of retinoschisis. Mutations were detected in all RS patients. Of the 11 different mutations identified, six have been reported previously and five are novel. We did not find mutations ...

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