Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNA his gene

Journal of Medical Genetics

Volumn 48, Issue 10, 2011, Pages 682-690

  Yan, Xukun ^a   Wang, Xinjian ^b   Wang, Zhengmin ^a   Sun, Shan ^a   Chen, Guoling ^a   He, Yingzi ^a   Mo, Jun Qin ^b   Li, Ronghua ^b,c   Jiang, Pingping ^d   Lin, Qin ^a   Sun, Mingzhi ^a   Li, Wen ^a   Bai, Yan ^a   Zhang, Jianning ^a   Zhu, Yi ^c   Lu, Jianxin ^c   Yan, Qingfeng ^d   Li, Huawei ^a   Guan, Min Xin ^a,b,c,d  

^a FUDAN UNIVERSITY   (China)

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

^c WENZHOU MEDICAL UNIVERSITY   (China)

^d ZHEJIANG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ASCORBIC ACID; GLUTAMIC ACID; GLYCEROPHOSPHATE; MALIC ACID; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; N,N,N',N' TETRAMETHYL 1,4 PHENYLENEDIAMINE; SUCCINIC ACID; TRANSFER RNA;

ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; DISEASE SEVERITY; FAMILY; GENE MUTATION; GENETICS; HEARING IMPAIRMENT; HETEROPLASMY; HUMAN; HUMAN CELL; IN VIVO STUDY; LYMPHOBLASTOID CELL LINE; MITOCHONDRIAL GENE; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; MOLECULAR BIOLOGY; NON SYNDROMIC HEARING LOSS; NORTHERN BLOTTING; ONSET AGE; PERCEPTION DEAFNESS; PLACENTAL TRANSFER; PRIORITY JOURNAL; PROTEIN ANALYSIS; RELATIVE; RNA TRANSLATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BLOTTING, NORTHERN; CELLS, CULTURED; CHILD; CHINA; DNA, MITOCHONDRIAL; FAMILY; FEMALE; GENES, MITOCHONDRIAL; HEARING LOSS; HEARING TESTS; HUMANS; MALE; MIDDLE AGED; MOTHERS; MUTATION; OXYGEN CONSUMPTION; PEDIGREE; RNA, TRANSFER, HIS; SEQUENCE ANALYSIS, DNA;

EID: 80955159788     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100219     Document Type: Article

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