Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

J Med Genet. 2002 Oct;39(10):E66. doi: 10.1136/jmg.39.10.e66.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Consanguinity
  • Cyclic Nucleotide-Gated Cation Channels
  • DNA / genetics
  • DNA Mutational Analysis / methods
  • Eye Proteins / genetics
  • Female
  • Genes, Recessive / genetics*
  • Homozygote*
  • Humans
  • Ion Channels / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Nuclear Family
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Spain

Substances

  • Cyclic Nucleotide-Gated Cation Channels
  • Eye Proteins
  • Ion Channels
  • DNA