Article
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.
Orphanet journal of rare diseases - 14 Jun 2013
Yang Tao, Wei Xiaoming, Chai Yongchuan, Li Lei, Wu Hao
Abstract excerpt
BACKGROUND: Although over 60 non-syndromic deafness genes have been identified to date, the etiologic contribution of most deafness genes remained elusive. In this study, we addressed this issue by targeted next-generation sequencing of a large cohort of non-syndromic deaf probands. METHODS: Probands with mutations in commonly screened deafness genes GJB2, SLC26A4 and MT-RNR1 were pre-excluded by Sanger...
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