Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa

J Med Genet. 2000 Jun;37(6):E5. doi: 10.1136/jmg.37.6.e5.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Exons
  • Female
  • Genes, Recessive
  • Humans
  • Introns
  • Male
  • Pedigree
  • Polymorphism, Genetic / genetics
  • Receptors, GABA / genetics*
  • Receptors, GABA-A
  • Receptors, GABA-B*
  • Retinitis Pigmentosa / genetics*

Substances

  • GABA type B receptor, subunit 1
  • GABRR2 protein, human
  • Receptors, GABA
  • Receptors, GABA-A
  • Receptors, GABA-B