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...

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Detalles Bibliográficos
Autores principales: Iqbal, Hina, Sarfaraz, Tayyba, Anjum, Farida, Anwar, Zubair, Mir, Asif
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Research Article
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

Internet

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

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