Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45

Ophthalmic Genet. 2016 Sep;37(3):357-9. doi: 10.3109/13816810.2015.1087578. Epub 2016 Feb 22.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Codon, Nonsense*
  • Cyclic Nucleotide-Gated Cation Channels / genetics*
  • Electroretinography
  • Female
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Retina / physiology
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / physiopathology
  • Tomography, Optical Coherence

Substances

  • CNGB1 protein, human
  • Codon, Nonsense
  • Cyclic Nucleotide-Gated Cation Channels