The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family

We report here the clinical, genetic and molecular characterization of a large Han Chinese family with aminoglycoside induced and nonsyndromic hearing loss. The penetrance of hearing loss (affected matrilineal relatives/total matrilineal relatives) in this pedigree was 53%, when aminoglycoside-induc...

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Detalhes bibliográficos
Main Authors: Liao, Zhisu, Zhao, Jianyue, Zhu, Yi, Yang, Li, Yang, Aifen, Sun, Dongmei, Zhao, Zhongnong, Wang, Xinjian, Tao, Zhihua, Tang, Xiaowen, Wang, Jindan, Guan, Minqiang, Chen, Jiafu, Li, Zhiyuan, 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/PMC2696936/
https://ncbi.nlm.nih.gov/pubmed/17723226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2007.08.034
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