Phenotypic variability associated with the D226N allele of IMPDH1

Ophthalmology. 2015 Feb;122(2):429-31. doi: 10.1016/j.ophtha.2014.07.057. Epub 2014 Nov 13.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Child
  • Consanguinity
  • Electroretinography
  • Female
  • Genetic Linkage
  • Humans
  • IMP Dehydrogenase / genetics*
  • Infant
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Photic Stimulation
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Young Adult

Substances

  • IMP Dehydrogenase
  • IMPDH1 protein, human