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Article

Variants in ASB10 are associated with open-angle glaucoma

8 Dec 2011

Abstract excerpt

The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) in a large family with primary open angle glaucoma (POAG) mapping to...

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PMID: 22156576
DOI: 10.1093/hmg/ddr572

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