R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.

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R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.

Molecular vision - 12 Aug 2010

Xu Jun, Gu Hong, Ma Kai, Liu Xipu, Snellingen Torkel, Sun Erdan, Wang Ningli, Liu Ningpu

Abstract excerpt

PURPOSE: We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene. METHODS: Family history was collected and all family members underwent routine ophthalmic examination. Venous blood was collected from family members and genomic DNA was...

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PMID: 20806044
PMCID: PMC2927431

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