Article
Molecular genetics of retinitis pigmentosa.
The Western journal of medicine - 1 Oct 1991
Farber D B, Heckenlively J R, Sparkes R S, Bateman J B
Abstract excerpt
Retinitis pigmentosa is a model for the study of genetic diseases. Its genetic heterogeneity is reflected in the different forms of inheritance (autosomal dominant, autosomal recessive, or X-linked) and, in a few families, in the presence of mutations in the visual pigment rhodopsin. Clinical and molecular genetic studies of these disorders are discussed. Animal models of retinal degeneration have been...
Topics
- Animals
- Genes
- Genetic Linkage
- Humans
- Mice
- Molecular Biology
- Mutation
- Pedigree
- Retinitis Pigmentosa
- Rhodopsin