Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A)
- 9 April 1998
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 338 (15) , 1022-1027
- https://doi.org/10.1056/nejm199804093381503
Abstract
A substantial proportion of cases of glaucoma have a genetic basis. Mutations causing glaucoma have been identified in the chromosome 1 open-angle glaucoma gene (GLC1A), which encodes a 57-kd protein known as myocilin. The normal role of this protein and the mechanism by which mutations cause glaucoma are not known.Keywords
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