A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1

Japanese Journal of Ophthalmology

Volumn 46, Issue 3, 2002, Pages 336-340

  Shimizu, Satoko ^a   Mori, Naoki ^a   Kishi, Mari ^a   Sugata, Hirohisa ^a   Tsuda, Akiko ^a   Kubota, Nobue ^a  

^a TEIKYO UNIVERSITY   (Japan)

Author keywords

DNA sequencing; OPA1 gene; Splice site mutation; Type 1 optic atrophy

Indexed keywords

PROTEIN; PROTEIN OPA1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CENTRAL SCOTOMA; CONTROLLED STUDY; DISEASE COURSE; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC SCREENING; HEREDITARY OPTIC ATROPHY; HUMAN; INTRON; JAPAN; MAJOR CLINICAL STUDY; MALE; PALLOR; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VISUAL ACUITY;

ADULT; BASE SEQUENCE; CHILD; GTP PHOSPHOHYDROLASES; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; POLYMERASE CHAIN REACTION; VISION DISORDERS; VISUAL ACUITY;

EID: 0036281944     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-5155(02)00484-7     Document Type: Article

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