Point mutation in a Becker muscular dystrophy patient

Hum Mol Genet. 1993 Jan;2(1):75-7. doi: 10.1093/hmg/2.1.75.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Dystrophin / genetics*
  • Exons
  • Female
  • Genotype
  • Humans
  • Ion Channels / genetics
  • Ion Channels / physiology
  • Male
  • Molecular Sequence Data
  • Muscles / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Point Mutation*
  • Polymerase Chain Reaction / methods

Substances

  • Dystrophin
  • Ion Channels

Associated data

  • GENBANK/L04186