Two Japanese patients with mutations in the XLRS1 gene

Retina. 2002 Jun;22(3):354-7. doi: 10.1097/00006982-200206000-00017.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Genetic Linkage
  • Humans
  • Japan
  • Male
  • Mutation, Missense*
  • Pedigree
  • Photoreceptor Cells, Vertebrate / pathology
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • X Chromosome

Substances

  • Eye Proteins
  • RS1 protein, human