Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene

Human Genetics

Volumn 118, Issue 6, 2006, Pages 767-771

  Schimpf, Simone ^a   Schaich, Simone ^a   Wissinger, Bernd ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CLINICAL ARTICLE; DNA DETERMINATION; DNA FLANKING REGION; EXON; GENE; GENE ACTIVATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; MUTATIONAL ANALYSIS; NONHUMAN; OPA1 GENE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS;

ALTERNATIVE SPLICING; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; EXONS; GTP PHOSPHOHYDROLASES; HUMANS; INTRONS; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; RNA SPLICE SITES; TRANSFECTION;

ANIMALIA;

EID: 32444445017     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-0096-7     Document Type: Article

References (8)

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