Article
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
Clinical genetics - 1 Sept 2007
Wang Q-J, Zhao Y-L, Rao S-Q, Guo Y-F, Yuan H, Zong L, Guan J, Xu B-C, Wang D-Y, Han M-K, Lan L, Zhai S-Q, Shen Y
Abstract excerpt
There is a worldwide interest in studying SLC26A4 mutations that are responsible for enlarged vestibular aqueduct (EVA) in different ethnic background and populations. The spectrum of SLC26A4 mutations in Chinese population is yet to be fully characterized. In this study, all the 21 exons of SLC26A4 were screened in 107 Chinese patients with hearing loss associated with EVA or both EVA and Mondini dysplasia (MD),...
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