Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation

Molecular Genetics and Metabolism

Volumn 99, Issue 4, 2010, Pages 417-424

  Tong, Yi ^a,b,c   Sun, Yan Hong ^d   Zhou, Xiangtian ^a   Zhao, Fuxin ^a   Mao, Yijian ^a   Wei, Qi ping ^d   Yang, Li ^e   Qu, Jia ^a,b   Guan, Min Xin ^b,e,f  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c FUJIAN MEDICAL UNIVERSITY   (China)

^d BEIJING UNIVERSITY OF CHINESE MEDICINE   (China)

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

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

Author keywords

Chinese; Haplotype; Leber hereditary optic neuropathy; Mitochondrial DNA; Modifiers; Mutation; ND1; Penetrance; Visual loss

Indexed keywords

ALANINE; GLYCINE; MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; ASIA; CHINESE; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; EPIGENETICS; FAMILY; FEMALE; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL GENOME; MOLECULAR DYNAMICS; ND 1 GENE; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; DNA, MITOCHONDRIAL; FEMALE; HAPLOTYPES; HUMANS; MALE; MUTATION; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PENETRANCE; VISION, LOW;

EID: 77649341029     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.12.004     Document Type: Article

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