Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in chinese families

Mitochondrion

Volumn 13, Issue 6, 2013, Pages 772-781

  Zhang, Juanjuan ^a,b   Zhao, Fuxin ^b   Fu, Qun ^c   Liang, Min ^a   Tong, Yi ^b   Liu, Xiaoling ^b   Lin, Bei ^b   Mi, Hui ^b   Zhang, Minglian ^d   Wei, Qi Ping ^e   Xue, Ling ^b   Jiang, Pingping ^a   Zhou, Xiangtian ^b   Mo, Jun Qin ^f   Huang, Taosheng ^f   Qu, Jia ^b   Guan, Min Xin ^a,f  

^a ZHEJIANG UNIVERSITY   (China)

^b WENZHOU MEDICAL UNIVERSITY   (China)

^c XINXIANG MEDICAL UNIVERSITY   (China)

^d Xingtai Eye Hospital   (China)

^e BEIJING UNIVERSITY OF CHINESE MEDICINE   (China)

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

Author keywords

Chinese; Haplogroup; Leber's hereditary optic neuropathy; Mitochondrial DNA mutation; ND6; Penetrance

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; DNA FRAGMENTATION; ENVIRONMENTAL FACTOR; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; IMMUNOPHENOTYPING; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MITOCHONDRION; MT ND6 GENE; MUTATIONAL ANALYSIS; PHYLOGENETIC TREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SEX DIFFERENCE;

CHINESE; HAPLOGROUP; LEBER'S HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL DNA MUTATION; ND6; PENETRANCE;

CHINA; FEMALE; GENOME, MITOCHONDRIAL; HAPLOTYPES; HUMANS; MALE; MITOCHONDRIA; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PHENOTYPE; PHYLOGENY;

EID: 84887002945     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2013.05.002     Document Type: Article

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