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Tag Archives: PAX6
Cure for aniridia under spotlight
A new study has suggested potential eyedrop therapy for aniridia. Is the hype justified and what are the details? Aniridia is a genetic abnormality caused by mutations in the so-called ‘Master Regulator’ gene for eye development, PAX6. Because PAX6 is … Continue reading
Posted in Medical staff talking, Research
Tagged ataluren, Martin Collinson, PAX6, ribosome, Sharon Stewart Aniridia Trust
9 Comments
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
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
