Identification and characterization of a
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John Neidhardt; Esther Glaus; Daniel Barthelmes; Christina Zeitz; Johannes Fleis
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Article
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2007
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John Wiley and Sons
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English
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Retinitis pigmentosa (RP) constitutes a major cause of blindness and the Retinitis Pigmentosa GTPase Regulator (RPGR) gene accounts for up to 80% of all X-linked RP cases. A novel isoform of RPGR, expressed in the human retina, was identified and characterized. It truncates the Regulator of Chromoso