W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

Hum Mutat. 2000 Jun;15(6):583-4. doi: 10.1002/1098-1004(200006)15:6<583::AID-HUMU24>3.0.CO;2-X.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine / genetics
  • Genes, Dominant / genetics*
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Membrane Glycoproteins*
  • Mutation, Missense / genetics*
  • Nerve Tissue Proteins / genetics*
  • Peripherins
  • Retinal Degeneration / genetics*
  • Retinitis Pigmentosa / genetics*
  • Tryptophan / genetics

Substances

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