Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene

Eye (Lond). 2011 Aug;25(8):1098-101. doi: 10.1038/eye.2011.88. Epub 2011 Apr 15.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Codon, Nonsense / genetics*
  • Dark Adaptation
  • Electroretinography
  • Eye Diseases, Hereditary
  • Female
  • Homozygote
  • Humans
  • Night Blindness / genetics*
  • Retinal Rod Photoreceptor Cells / physiology
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • Codon, Nonsense
  • RNF7 protein, human
  • Ubiquitin-Protein Ligases

Supplementary concepts

  • Oguchi disease