Article
Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.
Genetic testing and molecular biomarkers - 1 Apr 2010
Bonyadi Mortaza, Omrani Omid, Moghanjoghi Shiva Mohamadi, Shiva Siyamak
Abstract excerpt
AIM: Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe), and production of the phenylketonuria disease. To date there have been no reports on the molecular analysis of phenylketonuria in the Iranian Azeri Turkish population. In this study, a total of 88 independent...
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