Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families

Hum Mutat. 2001;17(1):80. doi: 10.1002/1098-1004(2001)17:1<80::AID-HUMU27>3.0.CO;2-G.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Arginine / genetics
  • Cysteine / genetics
  • Electrophoresis, Polyacrylamide Gel
  • Eye Proteins / genetics*
  • Genes, Dominant / genetics*
  • Histidine / genetics
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Macular Degeneration / genetics*
  • Membrane Glycoproteins*
  • Mutation, Missense*
  • Nerve Tissue Proteins / genetics*
  • Peripherins
  • Polymerase Chain Reaction
  • Retinal Degeneration / genetics
  • Tryptophan / genetics
  • Tyrosine / genetics

Substances

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