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Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNA Gene in a Large Chinese Family

We report here the characterization of a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides, some matrilineal relatives in this family exhibited late-onset/progressive deafness, with a wide range of severity and age at...

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Detalhes bibliográficos
Main Authors: Zhao, Hui, Li, Ronghua, Wang, Qiuju, Yan, Qingfeng, Deng, Jian-Hong, Han, Dongyi, Bai, Yidong, Young, Wie-Yen, Guan, Min-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181901/
https://ncbi.nlm.nih.gov/pubmed/14681830
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