Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy

Hum Mutat. 1995;6(3):257-9. doi: 10.1002/humu.1380060312.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Arginine
  • Blindness / genetics*
  • Genetic Linkage*
  • Humans
  • Male
  • Mutation
  • Retinal Diseases / genetics*
  • Vitreoretinopathy, Proliferative / genetics
  • X Chromosome*

Substances

  • Arginine