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A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus
PURPOSE: To identify a potential pathogenic mutation in a four-generation Chinese family with X-linked congenital nystagmus (XLCN). METHODS: Routine clinical examination and ophthalmic evaluation were performed on normal controls, two patients and two healthy members of the family. Genomic DNA was p...
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| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Molecular Vision
2012
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3261083/ https://ncbi.nlm.nih.gov/pubmed/22262942 |
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