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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...

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Detalles Bibliográficos
Autores principales:	Fan, Dongyan, Zhu, Wei, Li, Dejun, Ji, De, Wang, Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256404/ https://www.ncbi.nlm.nih.gov/pubmed/25474651 http://dx.doi.org/10.1371/journal.pone.0114136

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