Article
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
Human genetics - 1 Jan 2000
Zito I, Thiselton D L, Gorin M B, Stout J T, Plant C, Bird A C, Bhattacharya S S, Hardcastle A J
Abstract excerpt
The X-linked form of retinitis pigmentosa (XLRP) is a severe disease of the retina, characterised by night blindness and visual field constriction in a degenerative process, culminating with complete loss of sight within the third decade of life. Genetic mapping studies have identified two major loci for XLRP: RP3 (70%-75% of XLRP) and RP2 (20%-25% of XLRP). The RPGR (retinitis pigmentosa GTPase regulator) gene...
Topics
- Base Sequence
- Carrier Proteins
- Exons
- Eye Proteins
- Female
- Frameshift Mutation
- Genetic Linkage
- Genetic Testing
- Genotype
- Haplotypes
- Humans
- Introns
- Male
- Models, Genetic