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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2012
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511533/
https://ncbi.nlm.nih.gov/pubmed/23226338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0050628
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