PREVALENCE OF PAH MUTATIONS IN GEORGIAN PKU PATIENTS COMPARED TO MOST FREQUENT PAH MUTATIONS IN EUROPEAN POPULATIONS.

Abstract excerpt

The aim of the study was to compare Georgian PAH mutation spectrum to the most frequent European mutations. Population study publications were reviewed and 20 most frequent European PAH mutations were determined. Mutations were detected in 40 Georgian PKU patients using Sanger sequencing. PAH mutations were detected on all 80 alleles, clinical diagnose of PKU was confirmed in all 40 patients. Detected mutations...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to DNA Mutational Analysis
• Share to Europe