The mitochondrial tRNAGlu A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy

Biochemical and Biophysical Research Communications

Volumn 357, Issue 2, 2007, Pages 524-530

  Tong, Yi ^a,b   Mao, Yijian ^a   Zhou, Xiangtian ^a   Yang, Li ^a,c   Zhang, Juanjuan ^a   Cai, Wanshi ^a   Zhao, Fuxing ^a   Wang, Xinjian ^c   Lu, Fan ^a   Qu, Jia ^a   Guan, Min Xin ^a,c,d  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b FUJIAN MEDICAL UNIVERSITY   (China)

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

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

Author keywords

Chinese; Haplotype; LHON; Mitochondria DNA; Modifier; Mutation; tRNA; Variant; Vision loss

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA; URIDINE;

ADOLESCENT; ADULT; ARTICLE; CENTRAL SCOTOMA; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; RNA METABOLISM; RNA STRUCTURE; SEQUENCE ANALYSIS;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MUTATION; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34247092566     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.03.189     Document Type: Article

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