Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

Am J Hum Genet. 1999 Apr;64(4):1225-8. doi: 10.1086/302335.
No abstract available

Publication types

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

MeSH terms

  • Blindness / congenital*
  • Blindness / genetics*
  • Blindness / physiopathology
  • Carrier Proteins
  • Chromosomes, Human, Pair 1 / genetics
  • Consanguinity
  • Eye Proteins
  • Female
  • Genetic Linkage / genetics
  • Guanylate Cyclase / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Optic Atrophies, Hereditary / genetics*
  • Optic Atrophies, Hereditary / physiopathology
  • Pedigree
  • Phenotype
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • Receptors, Cell Surface*
  • Retinal Cone Photoreceptor Cells / physiopathology
  • cis-trans-Isomerases

Substances

  • Carrier Proteins
  • Eye Proteins
  • Proteins
  • Receptors, Cell Surface
  • guanylate cyclase 1
  • retinoid isomerohydrolase
  • Guanylate Cyclase
  • cis-trans-Isomerases