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Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis
Nonsyndromic hearing loss is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness and nonsyndromic nearing loss. We studied a P...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085335/ https://www.ncbi.nlm.nih.gov/pubmed/21541222 http://dx.doi.org/10.1155/2011/304612 |