Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

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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Bibliographic Details
Main Authors:	Oscar Diaz-Horta, Duygu Duman, Joseph Foster, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H Ulloa, Yvonne J K Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2012-01-01
Series:	PLoS ONE
Online Access:	http://europepmc.org/articles/PMC3511533?pdf=render

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