Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa

Hum Mutat. 1994;3(4):409-10. doi: 10.1002/humu.1380030417.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine / genetics
  • Genes, Dominant
  • Humans
  • Leucine / genetics
  • Lysine / genetics
  • Methionine / genetics
  • Point Mutation*
  • Protein Conformation
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / chemistry
  • Rhodopsin / genetics*

Substances

  • Rhodopsin
  • Arginine
  • Methionine
  • Leucine
  • Lysine