Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G→A) associated with intron retention

Ophthalmic Research

Volumn 37, Issue 4, 2005, Pages 214-224

  Hayashi, Takaaki ^a   Gekka, Tamaki ^a   Omoto, Satoshi ^a   Takeuchi, Tomokazu ^a   Kitahara, Kenji ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal dominant inheritance; Color vision defects; Intron retention; Nonsense mediated mRNA decay; Optic atrophy; Premature termination codon; Splice site mutation

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CODON; COLOR VISION; EXON; EYE FUNDUS; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INTRON; LEUKOCYTE; MALE; OPTIC DISK; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; RNA SPLICING; VISUAL ACUITY; VISUAL FIELD; WILD TYPE; COLOR VISION DEFECT; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; STOP CODON;

GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN, HUMAN; RNA PRECURSOR;

ADULT; CODON, NONSENSE; COLOR VISION DEFECTS; DNA MUTATIONAL ANALYSIS; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA PRECURSORS; RNA SPLICE SITES; VISUAL ACUITY; VISUAL FIELDS;

EID: 25144490747     PISSN: 00303747     EISSN: None     Source Type: Journal    
DOI: 10.1159/000086862     Document Type: Article

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