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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Бібліографічні деталі
Автори:	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
Формат:	Artigo
Мова:	Inglês
Опубліковано:	Public Library of Science (PLoS) 2012-01-01
Серія:	PLoS ONE
Онлайн доступ:	http://europepmc.org/articles/PMC3511533?pdf=render
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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

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