X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPas
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus
โ Scribed by I. Zito; D.L. Thiselton; M.B. Gorin; J.T. Stout; C. Plant; A.C. Bird; S.S. Bhattacharya; A.J. Hardcastle
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 188 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0340-6717
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X-linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients. Clinically there is no clearly signifi
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We describe three new mutations in a recently identiยฎed exon, ORF15, of the retinitis pigmentosa GTPase regulator gene (RPGR) in three unrelated Japanese families (Families 1ยฑ3) with X-linked retinitis pigmentosa (XLRP). The affected males had typical retinitis pigmentosa (RP), whereas the obligate
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