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

J Neurol. 2006 May;253(5):672-3. doi: 10.1007/s00415-005-0057-z. Epub 2005 Dec 12.
No abstract available

Publication types

  • Comparative Study
  • Letter

MeSH terms

  • Adult
  • Arginine / genetics
  • Codon, Nonsense / genetics*
  • DNA Mutational Analysis / methods
  • Exons
  • Family Health
  • Female
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Male
  • Mutation*
  • Optic Atrophy, Autosomal Dominant / genetics*

Substances

  • Codon, Nonsense
  • Arginine
  • GTP Phosphohydrolases
  • OPA1 protein, human