Article
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America - 24 Oct 1995
Dryja T P, Finn J T, Peng Y W, McGee T L, Berson E L, Yau K W
Abstract excerpt
Mutations in the genes encoding two proteins of the retinal rod phototransduction cascade, opsin and the beta subunit of rod cGMP phosphodiesterase, cause retinitis pigmentosa (RP) in some families. Here we report defects in a third member of this biochemical pathway in still other patients with...
Topics
- 3',5'-Cyclic-GMP Phosphodiesterases
- Base Sequence
- Cell Line
- Cyclic Nucleotide Phosphodiesterases, Type 6
- Cyclic Nucleotide-Gated Cation Channels
- DNA Primers
- Exons
- Eye Proteins
- Female
- Genes, Recessive
- Humans
- Introns
- Ion Channels
- Macromolecular Substances