Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa

J Med Genet. 2005 May;42(5):436-8. doi: 10.1136/jmg.2004.024281.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Genes, Recessive*
  • Genetic Linkage
  • Humans
  • Microtubule-Associated Proteins
  • Mutation
  • Pakistan
  • Pedigree
  • Polymorphism, Genetic
  • Retinitis Pigmentosa / genetics*

Substances

  • Eye Proteins
  • Microtubule-Associated Proteins
  • RP1 protein, human