Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

Journal of Clinical Investigation

Volumn 91, Issue 5, 1993, Pages 1862-1867

  Narita, N ^a   Nishio, H ^a   Kitoh, Y ^a   Ishikawa, Y ^a,a   Minami, R ^a   Nakamura, H ^a   Matsuo, M ^a  

^a KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Duchenne muscular dystrophy; dystrophin gene; exon skipping; L1; retrotransposition

Indexed keywords

COMPLEMENTARY DNA; DYSTROPHIN; GENE PRODUCT; MESSENGER RNA; MESSENGER RNA PRECURSOR;

ADULT; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; ELECTROMYOGRAM; EXON; GENE AMPLIFICATION; GENE INSERTION; GENE INSERTION SEQUENCE; HUMAN; HUMAN CELL; MALE; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; PERIPHERAL LYMPHOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETROPOSON; RNA SPLICING; SEQUENCE HOMOLOGY;

EID: 0027258342     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI116402     Document Type: Article

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