A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis

Hum Genet. 1995 Sep;96(3):343-4. doi: 10.1007/BF00210420.

Abstract

Heteroduplex analysis was used to search for small mutations in a sample of 40 Italian DMD/BMB patients in whom large rearrangements were not found. A novel nonsense mutation in exon 17 of the dystrophin gene, consisting of a C to T transition, is described.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon, Nonsense / genetics
  • Dystrophin / genetics*
  • Exons / genetics
  • Humans
  • Italy
  • Muscular Dystrophies / genetics*
  • Nucleic Acid Heteroduplexes / analysis*
  • Nucleic Acid Heteroduplexes / genetics
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic

Substances

  • Codon, Nonsense
  • Dystrophin
  • Nucleic Acid Heteroduplexes

Grants and funding