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Identification of a novel calreticulin isoform (Crt2) in human and mouse

✍ Scribed by Staffan Persson; Magnus Rosenquist; Marianne Sommarin

Book ID
117521061
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
620 KB
Volume
297
Category
Article
ISSN
0378-1119

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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