Article
Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.
International journal of pediatric otorhinolaryngology - 1 Oct 2012
Hu Xiangyang, Liang Fenghe, Zhao Min, Gong Angela, Berry Emily R, Shi Yang, Wang Yanxiao, Chen Yan, Liu Aishu, Qu Chunyan
Abstract excerpt
OBJECTIVE: To investigate the mutations of SLC26A4 gene and the relevant phenotype in Chinese sporadic nonsyndromic hearing-impaired children. METHODS: 195 Chinese sporadic nonsyndromic hearing-impaired children were subjected to microarray-based mutation detection for 9 hot spot mutations in four of the most common deafness-related genes (GJB2, SLC26A4, GJB3, and 12s rRNA). Subsequently, twenty-one patients with...
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