Article
Founder TIGR/myocilin mutations for glaucoma in the Québec population.
Human molecular genetics - 1 Sept 2002
Faucher Mathieu, Anctil Jean-Louis, Rodrigue Marc-André, Duchesne Annie, Bergeron Dan, Blondeau Pierre, Côté Gilles, Dubois Stéphane, Bergeron Josée, Arseneault Rose, Morissette Jean, Raymond Vincent
Abstract excerpt
Primary open-angle glaucoma (POAG) is a complex disorder characterized by a progressive and treatable degeneration of the optic nerve. TIGR/myocilin (MYOC) gene mutations are found in approximately 4% of all POAG patients. Populations with frequent founder effects, such as the French-Canadians, offer unique advantages to implement genetic testing for the disorder. To assess molecular diagnosis for POAG in this...
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