OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

Japanese Journal of Ophthalmology

Volumn 56, Issue 1, 2012, Pages 91-97

  Hamahata, Tetsuya ^a   Fujimaki, Takuro ^a   Fujiki, Keiko ^a   Miyazaki, Ai ^a   Mizota, Atsushi ^b   Murakami, Akira ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal dominant optic atrophy; Mitochondria; Mutation; OPA1

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; BASE PAIRING; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; EOSINOPHIL COUNT; EXON; FAMILY ASSESSMENT; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; JAPANESE; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPTIC ATROPHY TYPE 1 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; STOP CODON; VISUAL ACUITY; VISUAL FIELD;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; POLYMERASE CHAIN REACTION; VISUAL ACUITY; VISUAL FIELDS;

EID: 84858862147     PISSN: 00215155     EISSN: 16132246     Source Type: Journal    
DOI: 10.1007/s10384-011-0096-1     Document Type: Article

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