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A novel mutation of RPGR gene in an X-Linked Chinese family with retinitis pigmentosa

✍ Scribed by Ningdong Li; Shuzhen Dai; Liling Zhang; Han Mei; Liming Wang


Book ID
116989267
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
693 KB
Volume
102
Category
Article
ISSN
1096-7192

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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