Article
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Human molecular genetics - 1 May 1999
Fingert J H, Héon E, Liebmann J M, Yamamoto T, Craig J E, Rait J, Kawase K, Hoh S T, Buys Y M, Dickinson J, Hockey R R, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey D A, Alward W L, Sheffield V C, Stone E M
Abstract excerpt
A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients. A total of 1703 patients was screened from five different populations representing three racial groups. There were 1284 patients from primarily Caucasian populations in Iowa (727), Australia (390)...
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