Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

Hum Mol Genet. 1992 Nov;1(8):645-6. doi: 10.1093/hmg/1.8.645.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA
  • Female
  • Humans
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • RNA Splicing*
  • RNA, Messenger / genetics

Substances

  • RNA, Messenger
  • DNA