Article
Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.
Ophthalmic genetics - 1 Dec 1998
Valverde D, Vázquez-Gundín F, del Rio E, Calaf M, Fernández J L, Baiget M
Abstract excerpt
Autosomal recessive retinitis pigmentosa (ARRP) is a degenerative disorder of photoreceptors. Mutations in several genes encoding different proteins of the visual cascade are described. The inheritance of two intragenic markers within the interstitial retinol binding protein (IRBP) gene was estab...
Topics
- Chromosome Segregation
- Consanguinity
- DNA-Binding Proteins
- Genes, Recessive
- Homozygote
- Humans
- Mutation
- Nuclear Proteins
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Retinitis Pigmentosa
- Spain