Article
Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss.
International journal of pediatric otorhinolaryngology - 1 Apr 2014
Chai Yongchuan, Sun Lianhua, Pang Xiuhong, Wang Xiaowen, Chen Dongye, Chen Ying, Wu Hao, Yang Tao
Abstract excerpt
OBJECTIVES: Mutations in GJB2 and MT-RNR1 are common causes for non-syndromic sensorineural hearing loss (NSHL). In this study, we investigated the co-existence of both MT-RNR1 and bi-allelic GJB2 mutations in a large number of simplex and multiplex probands with NSHL. METHODS: 485 simplex and 134 multiplex probands with NSHL were recruited for mutation screening of GJB2 and MT-RNR1 by bidirectional sequencing....
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