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Identification and characterization of two mature isoforms of retinoschisin in murine retina

โœ Scribed by Camasamudram Vijayasarathy; Mary Ann Gawinowicz; Yong Zeng; Yuichiro Takada; Ronald A. Bush; Paul A. Sieving


Book ID
116293460
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
347 KB
Volume
349
Category
Article
ISSN
0006-291X

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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