A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family

Hum Mol Genet. 1994 Jan;3(1):195-6. doi: 10.1093/hmg/3.1.195.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Arginine*
  • Base Sequence
  • DNA / genetics
  • Exons
  • Female
  • Genes, Dominant
  • Histidine*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*
  • Spain
  • Threonine*

Substances

  • Threonine
  • Histidine
  • DNA
  • Rhodopsin
  • Arginine