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GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

BACKGROUND: Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups. METHODS: In order to understand the spectrum and frequency of GJB2 mutations in the Ch...

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Detalles Bibliográficos
Autores principales: Dai, Pu, Yu, Fei, Han, Bing, Liu, Xuezhong, Wang, Guojian, Li, Qi, Yuan, Yongyi, Liu, Xin, Huang, Deliang, Kang, Dongyang, Zhang, Xin, Yuan, Huijun, Yao, Kun, Hao, Jinsheng, He, Jia, He, Yong, Wang, Youqin, Ye, Qing, Yu, Youjun, Lin, Hongyan, Liu, Lijia, Deng, Wei, Zhu, Xiuhui, You, Yiwen, Cui, Jinghong, Hou, Nongsheng, Xu, Xuehai, Zhang, Jin, Tang, Liang, Song, Rendong, Lin, Yongjun, Sun, Shuanzhu, Zhang, Ruining, Wu, Hao, Ma, Yuebing, Zhu, Shanxiang, Wu, Bai-lin, Han, Dongyi, Wong, Lee-Jun C
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679712/
https://www.ncbi.nlm.nih.gov/pubmed/19366456
http://dx.doi.org/10.1186/1479-5876-7-26