Article
Myocilin allele-specific glaucoma phenotype database.
Human mutation - 1 Feb 2008
Hewitt Alex W, Mackey David A, Craig Jamie E
Abstract excerpt
Glaucoma, a complex heterogenous disease, is the leading cause for optic nerve-related blindness worldwide. Since 1997, when mutations in the myocilin (MYOC) gene were identified as causing juvenile onset as well as a proportion of primary open-angle glaucoma (POAG), more than 180 variants have been documented. Approximately one in 30 unselected patients with POAG have a disease-causing myocilin mutation and it...
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