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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...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927431/ https://www.ncbi.nlm.nih.gov/pubmed/20806044 |