Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss

Biochemical and Biophysical Research Communications

Volumn 362, Issue 1, 2007, Pages 94-100

  Yuan, Huijun ^a   Chen, Jing ^a   Liu, Xin ^a   Cheng, Jing ^a   Wang, Xinjian ^b   Yang, Li ^b   Yang, Shuzhi ^a   Cao, Juyang ^a   Kang, Dongyang ^a   Dai, Pu ^a   Zhai, Suoqiang ^a   Han, Dongyi ^a   Young, Wie Yen ^a   Guan, Min Xin ^b,c  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

12S rRNA; Aminoglycoside; Chinese; Haplotype; Hearing loss; Mitochondrial DNA; Modifier; Mutation; Penetrance; tRNA

Indexed keywords

AMINO ACID; AMINOGLYCOSIDE; MITOCHONDRIAL DNA; RIBOSOME RNA; RRNA 12S; TRANSFER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUDIOMETRY; CHINESE; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOME ANALYSIS; HEARING LOSS; HUMAN; MALE; MITOCHONDRIAL MEMBRANE; MOLECULAR EVOLUTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OTOTOXICITY; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SCREENING TEST; SEQUENCE ANALYSIS;

AMINOGLYCOSIDES; CHINA; CYCLOOXYGENASE 1; DNA, MITOCHONDRIAL; FEMALE; HEARING LOSS; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RNA, RIBOSOMAL; RNA, TRANSFER; SEQUENCE ANALYSIS, DNA; SERINE;

EID: 34548092747     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.07.161     Document Type: Article

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