Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis

Hum Genet. 2010 Apr;127(4):479.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Carrier Proteins / genetics*
  • Codon / genetics
  • Eye Proteins / genetics*
  • Homozygote
  • Humans
  • Leber Congenital Amaurosis / genetics*
  • Mutation, Missense
  • cis-trans-Isomerases

Substances

  • Carrier Proteins
  • Codon
  • Eye Proteins
  • retinoid isomerohydrolase
  • cis-trans-Isomerases