Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

J Med Genet. 2001 Sep;38(9):611-4. doi: 10.1136/jmg.38.9.611.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Codon / genetics
  • Corneal Dystrophies, Hereditary / enzymology
  • Corneal Dystrophies, Hereditary / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Gene Frequency / genetics*
  • Genes, Dominant / genetics*
  • Guanylate Cyclase / genetics*
  • Haplotypes / genetics
  • Heterozygote
  • Humans
  • Microsatellite Repeats / genetics
  • Multigene Family / genetics*
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Retinitis Pigmentosa / enzymology*
  • Retinitis Pigmentosa / genetics*

Substances

  • Codon
  • Guanylate Cyclase