A retGC-1 mutation in autosomal dominant cone-rod dystrophy

Am J Hum Genet. 1998 Aug;63(2):651-4. doi: 10.1086/301985.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Base Sequence
  • Chromosome Mapping
  • Electroretinography
  • Exons
  • Female
  • Genes, Dominant
  • Genetic Carrier Screening
  • Guanylate Cyclase / chemistry
  • Guanylate Cyclase / genetics*
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Point Mutation*
  • Polymorphism, Genetic
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / physiopathology
  • Visual Acuity

Substances

  • Guanylate Cyclase