Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss

Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play a major role worldwide in causing deafness, but there is a high degree of genetic heterogeneity and many genes...

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Detalles Bibliográficos
Autores principales: Girotto, Giorgia, Abdulhadi, Khalid, Buniello, Annalisa, Vozzi, Diego, Licastro, Danilo, d'Eustacchio, Angela, Vuckovic, Dragana, Alkowari, Moza Khalifa, Steel, Karen P., Badii, Ramin, Gasparini, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846559/
https://www.ncbi.nlm.nih.gov/pubmed/24312468
http://dx.doi.org/10.1371/journal.pone.0080323

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846559/
https://www.ncbi.nlm.nih.gov/pubmed/24312468
http://dx.doi.org/10.1371/journal.pone.0080323

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