Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534

Hum Genet. 2006 Feb;118(6):777.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Eye Proteins / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Mutation, Missense
  • Nerve Tissue Proteins / genetics*
  • Optic Atrophy, Hereditary, Leber / genetics*

Substances

  • CRB1 protein, human
  • Eye Proteins
  • Membrane Proteins
  • Nerve Tissue Proteins