Mutations in RPE65 cause Leber's congenital amaurosis

Nat Genet. 1997 Oct;17(2):139-41. doi: 10.1038/ng1097-139.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Blindness / congenital*
  • Blindness / genetics*
  • Carrier Proteins
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA Primers / genetics
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Male
  • Mutation*
  • Optic Atrophies, Hereditary / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Proteins*
  • cis-trans-Isomerases

Substances

  • Carrier Proteins
  • DNA Primers
  • Eye Proteins
  • Proteins
  • DNA
  • retinoid isomerohydrolase
  • cis-trans-Isomerases