Article
The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa.
American journal of human genetics - 1 Oct 1992
Riess O, Noerremoelle A, Weber B, Musarella M A, Hayden M R
Abstract excerpt
The finding of a mutation in the beta subunit of the cyclic GMP (cGMP) phosphodiesterase gene causing retinal degeneration in mice (the Pdeb gene) prompted a search for disease-causing mutations in the human phosphodiesterase gene (PDEB gene) in patients with retinitis pigmentosa. All 22 exons including 196 bp of the 5' region of the PDEB gene have been assessed for mutations by using single-strand conformational...
Topics
- 3',5'-Cyclic-GMP Phosphodiesterases
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- DNA
- Exons
- Female
- Genes, Recessive
- Humans
- Introns