Development of a quantitative assay to distinguish glaucoma-causing and benign olfactomedin variants
Myocilin, expressed in the trabecular meshwork of the eye, has been linked to inherited primary open-angle glaucoma (POAG). The biological function of myocilin is unknown, but mutant myocilin exhibits a gain-of-function mechanism, aggregating within the endoplasmic reticulum of human trabecular mesh...
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Georgia Institute of Technology
2012
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| Online Access: | http://hdl.handle.net/1853/42931 |