Article
Glaucoma-associated WDR36 variants encode functional defects in a yeast model system.
Human molecular genetics - 1 Apr 2009
Footz Tim K, Johnson Jill L, Dubois Stéphane, Boivin Nicolas, Raymond Vincent, Walter Michael A
Abstract excerpt
Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. POAG is associated with a characteristic progression of changes to ocular morphology and degeneration at the optic nerve head with the loss of visual fields. Physical mapping efforts identified genomic loci in which to search for causative POAG gene mutations. WDR36, at locus GLC1G, was initially identified as a gene with a low...
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