Tag Archives: PAX6

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia

Posted on May 16, 2011 by

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) … Continue reading →

Rate this:

Posted in Research | Tagged | Leave a comment