Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis

Hum Genet. 2010 Apr;127(4):487.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Codon / genetics
  • Eye Proteins / genetics*
  • Humans
  • Leber Congenital Amaurosis / genetics*
  • Microtubule-Associated Proteins / genetics*
  • Mutation, Missense

Substances

  • Codon
  • Eye Proteins
  • LCA5 protein, human
  • Microtubule-Associated Proteins