A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation

Eye (Lond). 2009 Jan;23(1):237-9. doi: 10.1038/eye.2008.33. Epub 2008 Mar 21.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

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

Substances

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