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Article

A novel compound heterozygous mutation of SLC26A4 in two Chinese families with nonsyndromic hearing loss and enlarged vestibular aqueducts.

Molecular medicine reports - 1 Dec 2017

Zhu Guang-Jie, Shi Lu-Sen, Zhou Han, Yang Ye, Chen Jie, Gao Xia

Abstract excerpt

Enlarged vestibular aqueduct (EVA)‑associated hearing loss is frequently detected in individuals carrying the SLC26A4 mutation in the Chinese population. The present study aimed to identify the causative SLC26A4 coding mutations in a patient group with nonsyndromic hearing loss (NSHL) and EVA. Genomic DNA was extracted from blood samples obtained from 52 NSHL patients with EVA and from 60 normal controls. The...

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PMID: 28990112
DOI: 10.3892/mmr.2017.7690

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