Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

Hum Mutat. 1998:Suppl 1:S137-8. doi: 10.1002/humu.1380110146.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Codon, Terminator / genetics
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Dystrophin / genetics*
  • Exons / genetics*
  • Family Health
  • Humans
  • Male
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Point Mutation
  • Serine

Substances

  • Codon, Terminator
  • DNA, Complementary
  • Dystrophin
  • Serine

Grants and funding