Novel A14841G mutation is associated with high penetrance of LHON/C4171A family

Biochemical and Biophysical Research Communications

Volumn 386, Issue 4, 2009, Pages 693-696

  Yang, Juhua ^a,b   Zhu, Yihua ^a   Chen, Lu ^a   Zhang, Hongxing ^c   Tong, Yi ^a   Huang, Dinggou ^a   Zhang, Zhiqiang ^a   Chen, Shi ^d   Han, Xiaoli ^a   Ma, Xu ^b  

^a FUJIAN MEDICAL UNIVERSITY   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c Jinan Second People's Hospital   (China)

^d FUZHOU SECOND HOSPITAL AFFILIATED TO XIAMEN UNIVERSITY   (China)

Author keywords

A14841G; C4171A; Haplogroup; LHON; Mitochondrial DNA; Penetrance

Indexed keywords

ASPARAGINE; CYTOCHROME B; MITOCHONDRIAL DNA; SERINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CONVALESCENCE; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROPLASMY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PENETRANCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PENETRANCE;

EID: 67650474123     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2009.06.102     Document Type: Article

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