Three novel mutations (P215L, T289P, and 3811-2 A-->G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families

Hum Mutat. 2000 Jul;16(1):95-6. doi: 10.1002/1098-1004(200007)16:1<95::AID-HUMU31>3.0.CO;2-0.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Genes, Dominant / genetics
  • Humans
  • Membrane Proteins / genetics
  • Mutation, Missense / genetics*
  • Perilipin-2
  • Polymorphism, Genetic
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*
  • Spain

Substances

  • Membrane Proteins
  • Perilipin-2
  • Rhodopsin