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Article

[Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Oct 2010

Li Qi, Fang Ruping, You Yiwen, Wang Yong, Dai Pu

Abstract excerpt

OBJECTIVE: To investigate the frequencies of SLC26A4 hot spot mutations by genetic testing method in non-syndromic hearing loss children. The feasibility of genetic screening method in finding enlarged vestibular aqueduct syndrome was confirmed by temporal bone CT scan. METHOD: Ninety-two children with moderate-profound hearing loss were enrolled and DNA were extracted from peripheral blood. SLC26A4 IVS7-2A > G...

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PMID: 21174747

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