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PMID:19279310
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| Citation |
Ito, YA, Footz, TK, Berry, FB, Mirzayans, F, Yu, M, Khan, AO and Walter, MA (2009) Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest. Ophthalmol. Vis. Sci. 50:3573-9 |
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| Abstract |
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. |
| Links |
PubMed Online version:10.1167/iovs.08-3032 |
| Keywords |
Animals; Aniridia/genetics; Aryl Hydrocarbon Hydroxylases; COS Cells; Cell Culture Techniques; Cercopithecus aethiops; Cornea/abnormalities; Corneal Opacity/genetics; Cytochrome P-450 CYP1B1; Cytochrome P-450 Enzyme System/genetics; Electrophoretic Mobility Shift Assay; Eye Proteins/genetics; Fluorescent Antibody Technique, Indirect; Forkhead Transcription Factors/genetics; Gene Expression; Glaucoma/congenital; HeLa Cells; Homeodomain Proteins/genetics; Humans; Immunoblotting; Infant, Newborn; Male; Mutagenesis, Site-Directed; Mutation, Missense; PAX6 Transcription Factor; Paired Box Transcription Factors/genetics; Phenotype; Plasmids; Polymerase Chain Reaction; Repressor Proteins/genetics |
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