Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa

Hum Mutat. 1996;8(4):393-4. doi: 10.1002/humu.1380080403.
No abstract available

Publication types

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

MeSH terms

  • 3',5'-Cyclic-GMP Phosphodiesterases / genetics*
  • Consanguinity
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • Exons
  • Female
  • Genes, Recessive
  • Homozygote
  • Humans
  • Macromolecular Substances
  • Male
  • Phosphoric Diester Hydrolases*
  • Point Mutation*
  • Retinal Rod Photoreceptor Cells / enzymology*
  • Retinitis Pigmentosa / genetics*
  • Spain

Substances

  • Macromolecular Substances
  • Phosphoric Diester Hydrolases
  • 3',5'-Cyclic-GMP Phosphodiesterases
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • PDE6B protein, human