Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis

Hum Genet. 2009 Apr;125(3):349.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Blindness / congenital*
  • Blindness / genetics*
  • Codon / genetics
  • Guanylate Cyclase / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense*
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Receptors, Cell Surface / genetics*

Substances

  • Codon
  • Receptors, Cell Surface
  • guanylate cyclase 1
  • Guanylate Cyclase

Associated data

  • GENBANK/HM080086