Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model

Clin Genet. 2010 Nov;78(5):495-8. doi: 10.1111/j.1399-0004.2010.01487.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Animals
  • Consanguinity
  • Cyclic Nucleotide Phosphodiesterases, Type 6 / genetics*
  • Eye Proteins / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Mice
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Retinitis Pigmentosa / genetics*
  • Sequence Homology, Amino Acid

Substances

  • Eye Proteins
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • PDE6A protein, human