Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL gene, GJB2, via Sanger sequencing, we performed wh...

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Detalles Bibliográficos
Autores principales: Diaz-Horta, Oscar, Duman, Duygu, Foster, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz Başak, Menendez, Ibis, Ulloa, Rick H., Edwards, Yvonne J. K., Züchner, Stephan, Blanton, Susan, Tekin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511533/
https://www.ncbi.nlm.nih.gov/pubmed/23226338
http://dx.doi.org/10.1371/journal.pone.0050628

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511533/
https://www.ncbi.nlm.nih.gov/pubmed/23226338
http://dx.doi.org/10.1371/journal.pone.0050628

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