Article
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.
Investigative ophthalmology & visual science - 1 Aug 2009
Ito Yoko A, Footz Tim K, Berry Fred B, Mirzayans Farideh, Yu May, Khan Arif O, Walter Michael A
Abstract excerpt
PURPOSE: FOXC1 mutations result in Axenfeld-Rieger syndrome, a disorder characterized by a broad spectrum of malformations of the anterior segment of the eye and an elevated risk for glaucoma. A novel FOXC1 W152G mutation was identified in a patient with aniridia. Molecular analysis was conducted to determine the functional consequences of the FOXC1 W152G mutation. METHODS: Site-directed mutagenesis was used to...
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