Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

J Med Genet. 2004 Feb;41(2):e20. doi: 10.1136/jmg.2003.011437.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Substitution / genetics
  • Child
  • Child, Preschool
  • Color Vision Defects / genetics*
  • Cyclic Nucleotide-Gated Cation Channels
  • DNA Mutational Analysis / methods
  • Female
  • Genotype
  • Humans
  • Ion Channels / chemistry*
  • Ion Channels / genetics*
  • Ion Channels / metabolism*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics

Substances

  • CNGB3 protein, human
  • Cyclic Nucleotide-Gated Cation Channels
  • Ion Channels