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

Anna Maria Barbieri, Nadia Soriani, Grazia M. Tubiello, Maurizio Ferrari, Paola Carrera

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)343-344
Number of pages2
JournalHuman Genetics
Volume96
Issue number3
DOIs
Publication statusPublished - Sep 1995

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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