A novel mutation in the RDS gene in an Italian family with pattern dystrophy

Br J Ophthalmol. 2005 Aug;89(8):1066-8. doi: 10.1136/bjo.2004.064188.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Female
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Mutation, Missense*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Peripherins
  • Retinal Degeneration / genetics*

Substances

  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH2 protein, human
  • Peripherins