Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

Different ethnic groups have distinct mutation spectrums associated with inheritable deafness. In order to identify the mutations responsible for congenital hearing loss in the Tibetan population, mutation screening for 98 deafness-related genes by microarray and massively parallel sequencing of cap...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Dongyan Fan, Wei Zhu, Dejun Li, De Ji, Ping Wang
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Public Library of Science (PLoS) 2014-01-01
Schriftenreihe:	PLoS ONE
Online-Zugang:	http://europepmc.org/articles/PMC4256404?pdf=render
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