Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

Nat Genet. 1994 Aug;7(4):551. doi: 10.1038/ng0894-551a.
No abstract available

Publication types

  • Published Erratum

MeSH terms

  • 3',5'-Cyclic-AMP Phosphodiesterases / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • Humans
  • Molecular Sequence Data
  • Night Blindness / enzymology
  • Night Blindness / genetics
  • Point Mutation
  • Retinal Rod Photoreceptor Cells / enzymology

Substances

  • DNA
  • 3',5'-Cyclic-AMP Phosphodiesterases