Article
Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss.
American journal of medical genetics. Part A - 15 Oct 2006
Young Wie-Yen, Zhao Lidong, Qian Yaping, Li Ronghua, Chen Jing, Yuan Huijun, Dai Pu, Zhai Suoqiang, Han Dongyi, Guan Min-Xin
Abstract excerpt
We report here on the clinical, genetic, and molecular characterization of three Han Chinese pedigrees with aminoglycoside-induced and nonsyndromic hearing loss. Clinical evaluation revealed the variable phenotype of hearing loss including severity, age-at-onset, audiometric configuration in these subjects. Penetrances of hearing loss in BJ107, BJ108, and BJ109 pedigrees are 35%, 63%, and 67%, respectively....
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