Article
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America - 11 Apr 1995
McLaughlin M E, Ehrhart T L, Berson E L, Dryja T P
Abstract excerpt
Mutations in the gene encoding the beta subunit of rod cGMP phosphodiesterase are known causes of photoreceptor degeneration in two animal models of retinitis pigmentosa, the rd (retinal degeneration) mouse and the Irish setter dog with rod/cone dysplasia. Here we report a screen of 92 unrelated...
Topics
- 3',5'-Cyclic-GMP Phosphodiesterases
- Amino Acid Sequence
- Base Sequence
- Cohort Studies
- Exons
- Female
- Genes, Recessive
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Retinal Rod Photoreceptor Cells