Article
Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
Human mutation - 1 May 2002
Vervoort Raf, Wright Alan F
Abstract excerpt
Mutations in RPGR, retinitis pigmentosa GTPase regulator, are associated with RP3 type of X-linked retinitis pigmentosa, a severe, non-syndromic form of retinal degeneration. In the majority of subjects RPGR mutations are associated with a typical rod-cone degeneration, but in a small number, cone-rod dystrophy, deafness, and abnormalities in respiratory cilia have been noted. Alternative splicing of RPGR is...
Topics
- Carrier Proteins
- Dyneins
- Eye Proteins
- Genotype
- Humans
- Phenotype
- Proteins
- Retinitis Pigmentosa
- X Chromosome