Article
Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands.
Molecular vision - 27 Sept 2007
Hogewind Barend F T, Gaplovska-Kysela Katarina, Theelen Thomas, Cremers Frans P M, Yam Gary H F, Hoyng Carel B, Mukhopadhyay Arijit
Abstract excerpt
PURPOSE: Glaucoma is the second most prevalent cause of blindness worldwide, projected to affect more than 60 million people by 2010, 75% of which represents primary open angle glaucoma (POAG). Of the three genes, namely, Myocilin (MYOC), Optineurin (OPTN), and WD repeat-containing protein 36 (WDR36), which have been shown to cause POAG when defective, MYOC is the most frequently mutated gene, accounting for...
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