Article
Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).
Human molecular genetics - 1 Jul 1993
Kumar-Singh R, Farrar G J, Mansergh F, Kenna P, Bhattacharya S, Gal A, Humphries P
Abstract excerpt
Retinitis Pigmentosa (RP) is the most prevalent degenerative retinal disease of mendelian origin, currently affecting approximately 1.5 million people worldwide. To date it has been established that a minimum of five different genes maybe involved in the pathogenesis of autosomal dominant forms o...
Topics
- Chromosome Mapping
- DNA
- Female
- Genes, Dominant
- Genetic Markers
- Humans
- Ireland
- Lod Score
- Male
- Mutation
- Polymorphism, Genetic
- Retinitis Pigmentosa