The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss

Biochemical and Biophysical Research Communications

Volumn 357, Issue 4, 2007, Pages 910-916

  Wei, Qi Ping ^a   Zhou, Xiangtian ^b   Yang, Li ^c   Sun, Yan Hong ^a   Zhou, Jian ^a   Li, Guang ^c   Jiang, Robert ^c   Lu, Fan ^b   Qu, Jia ^b   Guan, Min Xin ^b,c,d  

^a BEIJING UNIVERSITY OF CHINESE MEDICINE   (China)

^b WENZHOU MEDICAL UNIVERSITY   (China)

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

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

Author keywords

12S rRNA; Chinese; Hearing loss; LHON; Mitochondrial DNA; Modifier; Mutation; ND6; Variant; Vision loss

Indexed keywords

GENE PRODUCT; MITOCHONDRIAL DNA; ND6 PROTEIN; RRNA 12S; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CENTRAL SCOTOMA; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC VARIABILITY; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MITOCHONDRION; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; SCHOOL CHILD; SEQUENCE ANALYSIS; VISION;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; RNA, RIBOSOMAL;

EID: 34247860605     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.04.025     Document Type: Article

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