Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 643, Issue 1-2, 2008, Pages 48-53

  Wang, Hua Wei ^a,c   Jia, Xiaoyun ^b   Ji, Yanli ^b   Kong, Qing Peng ^a   Zhang, Qingjiong ^b   Yao, Yong Gang ^a   Zhang, Ya Ping ^a,c  

^a KUNMING INSTITUTE OF ZOOLOGY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

^c YUNNAN UNIVERSITY   (China)

Author keywords

G11778A; Haplogroup; LHON; mtDNA; Phylogeny

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; IN VIVO STUDY; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MITOCHONDRIAL RESPIRATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PENETRANCE; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; DNA, MITOCHONDRIAL; EVOLUTION, MOLECULAR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PENETRANCE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 49049096478     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2008.06.004     Document Type: Article

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