Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

Hum Mutat. 1994;3(3):321-3. doi: 10.1002/humu.1380030326.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Codon
  • Female
  • Genes, Dominant*
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Male
  • Membrane Glycoproteins*
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Nerve Tissue Proteins*
  • Neuropeptides / genetics
  • Pedigree
  • Peripherins
  • Polymerase Chain Reaction / methods
  • Retinitis Pigmentosa / genetics*
  • Rod Cell Outer Segment / metabolism
  • Sequence Deletion*

Substances

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

Associated data

  • GENBANK/S73627