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Article

Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness.

International journal of pediatric otorhinolaryngology - 1 Sept 2014

Wang Zhen-tao, Chen Ying, Chen Dong-ye, Chai Yong-chuan, Pang Xiu-hong, Sun Lian-hua, Wang Xiao-wen, Yang Tao, Wu Hao

Abstract excerpt

OBJECTIVE: To investigate the genetic causes of consanguineous Uyghur families with nonsyndromic deafness. METHOD: Seven consanguineous Uyghur families with nonsyndromic deafness were recruited in this study and characterized for their audiometric phenotype. Mutation analysis of common deafness genes GJB2, SLC26A4 and MT-RNR1 was performed in all families by direct sequencing. RESULT: Bi-allelic mutations in...

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Identifiers

PMID: 25015771
DOI: 10.1016/j.ijporl.2014.06.023

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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