Article
Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
Investigative ophthalmology & visual science - 1 Dec 2002
Panicker Shirly G, Sampath Srirangan, Mandal Anil K, Reddy Aramati B M, Ahmed Niyaz, Hasnain Seyed E
Abstract excerpt
PURPOSE: To determine the possible molecular genetic defect underlying Axenfeld-Rieger anomaly (ARA) and to identify the pathogenic mutation causing this anterior segment dysgenesis in an Indian pedigree. METHODS: The FOXC1 gene was amplified from genomic DNA of members of an ARA-affected family and control subjects using four novel sets of primers. The amplicons were directly sequenced, and the sequences were...
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