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Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy
PURPOSE: To define the phenotype and elucidate the molecular basis for an autosomal recessively inherited optic atrophy and auditory neuropathy in a consanguineous family with two affected children. METHODS: Family members underwent detailed ophthalmologic, electrophysiological, and audiological ass...
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| Asıl Yazarlar: | , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Molecular Vision
2010
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2855733/ https://ncbi.nlm.nih.gov/pubmed/20405026 |
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