Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree

Genomics. 1993 Feb;15(2):466.
No abstract available

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 6*
  • DNA, Single-Stranded
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Male
  • Membrane Glycoproteins*
  • Molecular Sequence Data
  • Mutation*
  • Nerve Tissue Proteins*
  • Neuropeptides / genetics
  • Pedigree
  • Peripherins
  • Retinitis Pigmentosa / genetics*

Substances

  • DNA, Single-Stranded
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • Neuropeptides
  • PRPH protein, human
  • PRPH2 protein, human
  • Peripherins