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Characterization of the NPGP receptor and identification of a novel short mRNA isoform in human hypothalamus

โœ Scribed by Baerbel Laemmle; Marcus Schindler; Mario Beilmann; Bradford S Hamilton; Henri N Doods; Heike A Wieland


Book ID
117348931
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
587 KB
Volume
111
Category
Article
ISSN
0167-0115

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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