Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping

Human Mutation

Volumn 30, Issue 1, 2009, Pages 22-28

  Madden, Heidi R ^a   Fletcher, Sue ^a   Davis, Mark R ^b   Wilton, Steve D ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b ROYAL PERTH HOSPITAL   (Australia)

Author keywords

Alternative splicing; Antisense oligonucleotides; AO; Cryptic exon; DMD; Duchenne muscular dystrophy; Dystrophin; Inversion

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; DYSTROPHIN;

ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

BASE SEQUENCE; CELLS, CULTURED; DYSTROPHIN; EXONS; HUMANS; INVERSION, CHROMOSOME; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; READING FRAMES;

EID: 58349094327     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20806     Document Type: Article

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