Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation - Wang, Qiuju; Li, Qing-Zhong; Han, Dongyi; Zhao, Yali; Zhao, Lidong; Qian, Yaping; Yuan, Hu; Li, Ronghua; Zhai, Suoqiang; Young, Wie-Yen; Guan, Min-Xin (Biochemical and biophysical research communications, 2006)
Keywords: 60 APPLIED LIFE SCIENCES; Adolescent; Adult; Aged, 80 and over; Aminoglycoside ototoxicity; Aminoglycosides - adverse effects; Child; Child, Preschool; China; Chinese; Cytosine; Diagnosis, Differential; DNA; DNA, Mitochondrial - genetics; Female; Haplotypes; Hearing loss; Hearing Loss - chemically induced; Hearing Loss - diagnosis; Hearing Loss - genetics; Hearing Loss - physiopathology; Humans; Male; Middle Aged; Mitochondrial 12S rRNA; Mutation; MUTATIONS; Nuclear background; PATHOGENESIS; Pedigree; Penetrance; PHENOTYPE; Point Mutation; RNA, Ribosomal - genetics; Sequence Analysis, DNA; STRUCTURAL CHEMICAL ANALYSIS; Thymine; China; Haplotypes; Mitochondrial 12S rRNA; Aminoglycoside ototoxicity; Nuclear background; Penetrance; Chinese; Mutation; Hearing loss