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Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

โœ Scribed by Miano, Maria Giuseppina; Testa, Francesco; Strazzullo, Maria; Trujillo, Mariajose; De Bernardo, Carmelilia; Grammatico, Barbara; Simonelli, Francesca; Mangino, Massimo; Torrente, Isabella; Ruberto, Giulio


Book ID
110024854
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
706 KB
Volume
7
Category
Article
ISSN
1018-4813

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RGPR was the first gene found to be mutated in XLRP, the subtype of RP displaying the most severe form of retinal degeneration with partial or complete blindness in the third or fourth decade of life. Despite the RP3 locus on Xp21.1 accounting for 60-90% of XLRP, only 10-20% of identified RPGR mutat