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Article

[Identification of a novel mutation of SLC26A4 gene with enlarged vestibular aqueduct syndrome].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 5 May 2017

Chen J, Shi L S, Zhou H, Zhu G J, Ma D B, Li J Y, Gao X

Abstract excerpt

Objective:To explore the mutation spectrum of SLC26A4 in Chinese patients with enlarged vestibular aqueduct syndrome.Method:Genomic DNA samples were extracted from peripheral blood of the cochlear implant recipients associated with enlarged vestibular aqueduct syndrome. The SLC26A4 mutations were analyzed by direct sequencing.Result:A novel missense mutation(347G>A) of SLC26A4 gene was found in a male...

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Identifiers

PMID: 29871349
DOI: 10.13201/j.issn.1001-1781.2017.09.011

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