Article
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia.
Molecular vision - 1 Jan 2011
Aggarwal Shagun, Jinda Worapoj, Limwongse Chanin, Atchaneeyasakul La-ongsri, Phadke Shubha R
Abstract excerpt
PURPOSE: To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia. METHODS: A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorphism (SSCP) followed by sequencing of genomic DNA from peripheral blood. RESULTS: A novel PAX6 mutation in the donor...
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