Article
A preliminary mutation analysis of phenylketonuria in southwest Iran.
Genetics and molecular research : GMR - 24 Oct 2013
Ajami N, Kazeminezhad S R, Foroughmand A M, Hasanpour M, Aminzadeh M
Abstract excerpt
Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. This study was designed to identify PAH mutations within exons 6, 7, and 10-12 in PKU patients from southwest Iran. Forty Iranian patients with clinical and biochemically confirmed PKU were enrolled. The exons were sequenced directly and 13...
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