A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

E. Cardaioli, G. N. Gallus, P. Da Pozzo, A. Rufa, R. Franceschini, E. Motolese, Aldo Caporossi, M. T. Dotti, A. Federico

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

[No abstract available]
Original languageEnglish
Pages (from-to)672-673
Number of pages2
JournalJournal of Neurology
Volume253
DOIs
Publication statusPublished - 2006

Keywords

  • Adult
  • Arginine
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Exons
  • Family Health
  • Female
  • GTP Phosphohydrolases
  • Humans
  • Male
  • Mutation
  • Neurology
  • Neurology (clinical)
  • Optic Atrophy, Autosomal Dominant

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