A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

Hum Mutat. 2001 Mar;17(3):239. doi: 10.1002/humu.18.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alternative Splicing / genetics*
  • Child, Preschool
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Dystrophin / genetics*
  • Exons / genetics*
  • Humans
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / pathology
  • Mutation
  • Phenotype
  • RNA, Messenger / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • DNA, Complementary
  • Dystrophin
  • RNA, Messenger