Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy

Hum Genet. 2007 Dec;122(5):555.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Codon / genetics
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Macular Degeneration / genetics*
  • Membrane Glycoproteins / genetics*
  • Mutation, Missense*
  • Nerve Tissue Proteins / genetics*
  • Peripherins

Substances

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