A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

Journal of Human Genetics

Volumn 47, Issue 4, 2002, Pages 196-201

  Suminaga, R ^a   Takeshima, Y ^a   Adachi, K ^a   Yagi, M ^a   Nakamura, H ^a   Matsuo, M ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Cryptic exon; Dystrophin; Intron; Mutation; Splicing

Indexed keywords

CREATINE KINASE; DNA; DYSTROPHIN; MESSENGER RNA; NUCLEOTIDE;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

INSERTION SEQUENCES; UNIDENTIFIED INSERTION SEQUENCE;

EID: 0036246289     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200023     Document Type: Article

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28. Infidelity in the structure of ectopic transcripts: A novel exon in lymphocyte dystrophin transcripts
29. Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
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