Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees

We report here the clinical, genetic and molecular characterization of three Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset and audiometric configuration of hearin...

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Detalhes bibliográficos
Main Authors: Chen, Jianfu, Yang, Li, Yang, Aifeng, Zhu, Yi, Zhao, Jianyue, Sun, Dongmei, Tao, Zhihua, Tang, Xiaowen, Wang, Jindan, Wang, Xinjian, Lan, Jinshan, Li, Weixing, Wu, Fangli, Yuan, Qian, Feng, Jinbao, Wu, Chunli, Liao, Zhisu, Li, Zhiyuan, Greinwald, John H., Lu, Jianxin, Guan, Min-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2014725/
https://ncbi.nlm.nih.gov/pubmed/17698299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2007.06.009
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