A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP

Genomics. 1994 Mar 1;20(1):137-9. doi: 10.1006/geno.1994.1142.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • Genes, Dominant
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Macula Lutea*
  • Membrane Glycoproteins*
  • Middle Aged
  • Molecular Sequence Data
  • Nerve Tissue Proteins*
  • Peripherins
  • Point Mutation*
  • Polymorphism, Genetic
  • Retinal Diseases / complications
  • Retinal Diseases / genetics*
  • Retinitis Pigmentosa / complications
  • Retinitis Pigmentosa / genetics*

Substances

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