Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNA Thr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three han chinese pedigrees

American Journal of Medical Genetics, Part A

Volumn 146, Issue 10, 2008, Pages 1248-1258

  Chen, Bobei ^a   Sun, Dongmei ^a   Yang, Li ^b   Zhang, Chuqin ^a   Yang, Aifen ^a   Zhu, Yi ^a   Zhao, Jianyue ^a   Chen, Yingying ^a   Guan, Minqiang ^a   Wang, Xinjian ^b   Li, Ronghua ^b   Tang, Xiaowen ^a   Wang, Jindan ^a   Tao, Zhihua ^a   Lu, Jianxin ^a   Guan, Min Xin ^a,b,c  

^a WENZHOU MEDICAL UNIVERSITY   (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; Expressivity; Haplotypes; Hearing loss; mtDNA; Mutation; Penetrance; tRNA; Variants

Indexed keywords

AMINO ACID; AMINOGLYCOSIDE; CYSTEINE TRANSFER RNA; GENTAMICIN; METHIONINE; MITOCHONDRIAL DNA; NUCLEOTIDE; POLYPEPTIDE; RNA 12S; STREPTOMYCIN; THREONINE; THREONINE TRANSFER RNA;

3' UNTRANSLATED REGION; ADULT; AMINO ACID SUBSTITUTION; ANTICODON; ARTICLE; AUDIOMETRY; BASE PAIRING; CASE REPORT; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE DISRUPTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC VARIABILITY; GENOME; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; MALE; MOLECULAR EVOLUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL;

AMINOGLYCOSIDES; BASE SEQUENCE; CHINA; CONNEXINS; DEAFNESS; DNA, MITOCHONDRIAL; HAPLOTYPES; HUMANS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PENETRANCE; PHENOTYPE; RNA, RIBOSOMAL; RNA, TRANSFER, CYS; RNA, TRANSFER, THR; SEVERITY OF ILLNESS INDEX; TRNA METHYLTRANSFERASES; VARIATION (GENETICS);

EID: 43049108431     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32285     Document Type: Article

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