Article
Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.
PloS one - 1 Jan 2012
Thompson Debra A, Khan Naheed W, Othman Mohammad I, Chang Bo, Jia Lin, Grahek Garrett, Wu Zhijian, Hiriyanna Suja, Nellissery Jacob, Li Tiansen, Khanna Hemant, Colosi Peter, Swaroop Anand, Heckenlively John R
Abstract excerpt
Animal models of human disease are an invaluable component of studies aimed at understanding disease pathogenesis and therapeutic possibilities. Mutations in the gene encoding retinitis pigmentosa GTPase regulator (RPGR) are the most common cause of X-linked retinitis pigmentosa (XLRP) and are estimated to cause 20% of all retinal dystrophy cases. A majority of RPGR mutations are present in ORF15, the purine-rich...
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