X-linked retinitis pigmentosa is a severe retinal degeneration characterized by night blindness and visual field constriction, leading to complete blindness within the third decade of life. Mutations in the RPGR gene (retinitis pigmentosa GTPase regulator), located on Xp21.1 in the RP3 region, have
Novel frameshift mutations in the RP2 gene and polymorphic variants
β Scribed by Dawn L. Thiselton; Ilaria Zito; Catherine Plant; Marcelle Jay; Shirley V. Hodgson; Alan C. Bird; Shomi S. Bhattacharya; Alison J. Hardcastle
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 18 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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