Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis

Hum Genet. 2010 Jan;127(1):119.
No abstract available

MeSH terms

  • Codon / genetics
  • Eye Proteins / genetics*
  • Humans
  • Leber Congenital Amaurosis / genetics*
  • Membrane Proteins / genetics*
  • Mutation, Missense*
  • Nerve Tissue Proteins / genetics*

Substances

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