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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...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Molecular Vision
2010
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2927431/ https://ncbi.nlm.nih.gov/pubmed/20806044 |
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