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

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 membe...

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Autors principals: Xu, Jun, Gu, Hong, Ma, Kai, Liu, Xipu, Snellingen, Torkel, Sun, Erdan, Wang, Ningli, Liu, Ningpu
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2010
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2927431/
https://ncbi.nlm.nih.gov/pubmed/20806044
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