Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation

Biochimica et Biophysica Acta - General Subjects

Volumn 1800, Issue 3, 2010, Pages 305-312

  Qu, Jia ^a   Zhou, Xiangtian ^a   Zhao, Fuxin ^a   Liu, Xiaoling ^a   Zhang, Minglian ^b   Sun, Yan Hong ^c   Liang, Min ^a   Yuan, Meixia ^a   Liu, Qi ^a   Tong, Yi ^a,d   Wei, Qi Ping ^d   Yang, Li ^e   Guan, Min Xin ^a,e,f  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b Department of Ophthalmology   (China)

^c BEIJING UNIVERSITY OF CHINESE MEDICINE   (China)

^d FUJIAN MEDICAL UNIVERSITY   (China)

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

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

Author keywords

Chinese; Haplogroup; Leber's hereditary optic neuropathy; Mitochondria; Mutation; ND6; Penetrance

Indexed keywords

CYSTEINE; MITOCHONDRIAL DNA; THREONINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MITOCHONDRIAL GENETICS; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; VISUAL IMPAIRMENT; ASIAN; CONFERENCE PAPER; DISEASE SEVERITY; DNA DETERMINATION; FAMILIAL DISEASE; GENE; HETEROZYGOTE; HOMOPLASY; MAJOR CLINICAL STUDY; ND6 GENE; RELATIVE; SCHOOL CHILD;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MUTATION; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; VISUAL ACUITY; VISUAL FIELDS;

EID: 76749092545     PISSN: 03044165     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbagen.2009.08.010     Document Type: Article

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