Article
Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country.
Journal of medical genetics - 1 May 1998
Alvarez A I, Arostegui E, Martin R, Duran M, Onaindia M L, Molina M, Tejada M I
Abstract excerpt
Retinitis pigmentosa (RP) is a degenerative disorder affecting the outer segment of the retina and leading to night blindness and progressive visual field loss. The rhodopsin gene encodes a photolabile pigment located in the rod outer segments constituting around 80-90% of its protein content and...
Topics
- Electrophoresis, Polyacrylamide Gel
- Female
- Humans
- Male
- Mutation
- Pedigree
- Polymorphism, Genetic
- Retinitis Pigmentosa
- Rhodopsin
- Spain