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Article

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

Gene - 15 Oct 2007

Chen Jianfu, Yang Li, Yang Aifen, Zhu Yi, Zhao Jianyue, Sun Dongmei, Tao Zhihua, Tang Xiaowen, Wang Jindan, Wang Xinjian, Tsushima Asami, Lan Jinshan, Li Weixing, Wu Fangli, Yuan Qian, Ji Jingzhang, Feng Jinbao, Wu Chunli, Liao Zhisu, Li Zhiyuan, Greinwald John H, Lu Jianxin, Guan Min-Xin

Abstract excerpt

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 hearing impairment in matrilineal relatives in these families. The penetrances of hearing loss in these pedigrees were...

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Identifiers

PMID: 17698299
DOI: 10.1016/j.gene.2007.06.009
PMCID: PMC2014725

Genes

GJB2

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Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.PMID 17698299Read ↗

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