Article
[Identification of 2 allelic mutations of the gene of the phosphodiesterase beta subunit in a Spanish family with recessive autosomic retinitis pigmentosa].
Medicina clinica - 10 Oct 1998
Baiget M, Calaf M, Valverde D, del Río E, Reig C, Carballo M, Calvo M T, González-Duarte R
Abstract excerpt
BACKGROUND: Retinitis pigmentosa (RP) is a group of inherited eye disorders that affect photoreceptor and pigment epithelial function. Mutations in different genes involved in the phototransduction process have been described in patients with autosomal recessive RP. PATIENTS AND METHODS: We exami...
Topics
- 3',5'-Cyclic-GMP Phosphodiesterases
- Alleles
- Cyclic Nucleotide Phosphodiesterases, Type 6
- Female
- Genes, Recessive
- Humans
- Mutation
- Pedigree
- Phosphoric Diester Hydrolases
- Retinal Rod Photoreceptor Cells
- Retinitis Pigmentosa
- Spain