Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1

Clin Genet. 2005 Jan;67(1):102-3. doi: 10.1111/j.1399-0004.2004.00358.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Codon / genetics
  • Exons
  • Frameshift Mutation
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Male
  • Optic Atrophy, Autosomal Dominant / etiology
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Polymorphism, Single Nucleotide
  • RNA Splicing*

Substances

  • Codon
  • GTP Phosphohydrolases
  • OPA1 protein, human