Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

J Med Genet. 2003 Aug;40(8):616-9. doi: 10.1136/jmg.40.8.616.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Consanguinity
  • Cytoskeletal Proteins
  • Female
  • Genes, Recessive / genetics*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Photoreceptor Cells, Vertebrate
  • Proteins / genetics*
  • Retinitis Pigmentosa / genetics*

Substances

  • Cytoskeletal Proteins
  • Proteins
  • RPGRIP1 protein, human