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Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II
PURPOSE: To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2). METHODS: One family (FR1) with arRP and three unrelated families (F6, F7, and F8) with Usher s...
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| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Molecular Vision
2011
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3115748/ https://ncbi.nlm.nih.gov/pubmed/21686329 |
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