Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?

Arch Ophthalmol. 2000 Feb;118(2):300. doi: 10.1001/archopht.118.2.300.
No abstract available

Publication types

  • Letter

MeSH terms

  • Chromosomes, Human, Pair 17*
  • Codon*
  • Female
  • Genetic Linkage
  • Guanylate Cyclase / genetics*
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Photoreceptor Cells, Vertebrate / enzymology*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Retinal Degeneration / enzymology
  • Retinal Degeneration / genetics*

Substances

  • Codon
  • Guanylate Cyclase