A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient

Hum Mol Genet. 1995 Nov;4(11):2171-4. doi: 10.1093/hmg/4.11.2171.
No abstract available

Publication types

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

MeSH terms

  • Adenine
  • Base Sequence
  • Child
  • DNA
  • Dystrophin / deficiency
  • Dystrophin / genetics*
  • Guanine
  • Humans
  • Introns
  • Male
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism
  • Point Mutation*
  • RNA Splicing / genetics*
  • RNA, Messenger / analysis
  • Sural Nerve / metabolism*

Substances

  • Dystrophin
  • RNA, Messenger
  • Guanine
  • DNA
  • Adenine

Associated data

  • GENBANK/M86892
  • GENBANK/M86893
  • GENBANK/M86894