Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy

Investigative Ophthalmology and Visual Science

Volumn 55, Issue 3, 2014, Pages 1321-1331

  Liang, Min ^a,b   Jiang, Pingping ^a   Li, Feng ^a   Zhang, Juanjuan ^a   Ji, Yanchun ^a   He, Yiqun ^b   Xu, Meifen ^b   Zhu, Jinping ^b   Meng, Xiangjuan ^b   Zhao, Fuxin ^b   Tong, Yi ^b,c   Liu, Xiaoling ^b   Sun, Yanhong ^d   Zhou, Xiangtian ^b   Mo, Jun Qin ^e   Qu, Jia ^b   Guan, Min Xin ^a,b,e  

^a Zhejiang University   (China)

^b WENZHOU MEDICAL UNIVERSITY   (China)

^c FUJIAN MEDICAL UNIVERSITY   (China)

^d BEIJING UNIVERSITY OF CHINESE MEDICINE   (China)

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

Author keywords

Incidence; Leber's hereditary optic neuropathy; Mitochondrial DNA; Mutational screening; ND6 gene

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN VARIANT; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE SEQUENCE; HAPLOTYPE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; ND6 GENE; NUCLEOTIDE SEQUENCE; PHYLOGENY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VISUAL ACUITY; VISUAL IMPAIRMENT;

INCIDENCE; LEBER'S HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL DNA; MUTATIONAL SCREENING; ND6 GENE;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MITOCHONDRIA; MUTATION; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; YOUNG ADULT;

EID: 84895859458     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-13011     Document Type: Article

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