Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA

Adv Exp Med Biol. 2006:572:9-14. doi: 10.1007/0-387-32442-9_2.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Cell Survival
  • DNA Mutational Analysis
  • Electroretinography
  • Exons
  • Genetic Variation*
  • Humans
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Recombinant Proteins / chemistry
  • Retinal Cone Photoreceptor Cells / pathology*
  • Retinal Degeneration / genetics
  • Retinal Degeneration / pathology
  • Retinal Rod Photoreceptor Cells / pathology*
  • Sequence Analysis, DNA
  • Thioredoxins / genetics*
  • Thioredoxins / metabolism*

Substances

  • NXNL1 protein, human
  • Recombinant Proteins
  • Thioredoxins