Article
Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.
American journal of ophthalmology - 1 Jul 2007
Wirtz Mary K, Samples John R, Choi Dongseok, Gaudette N Donna
Abstract excerpt
PURPOSE: To determine the glaucoma phenotype of an American pedigree with the myocilin Asp380His. DESIGN: An observational case series study. METHODS: An observational case series study was used to examine a family in which an Asp380His myocilin mutation was segregating. Thirteen family members were examined and medical records were obtained on the remaining two individuals. Blood samples were collected from all...
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