Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria

Abstract

Phenylketonuria (PKU) is an autosomal recessive disease which results from mutations in the phenylalanine hydroxylase (PAH) gene. The aim of this study was the identification of sixteen different mutations in Iranian patients with hyperphenylalaninemia. The mutations were detected during the characterization of PAH genotypes of 39 PKU patients from Qazvin… (More)
DOI: 10.1186/s40064-015-1309-8

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@inproceedings{Biglari2015MutationsOT, title={Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria}, author={Alireza Biglari and Fatemeh Saffari and Zahra Rashvand and Safarali Alizadeh and Reza Najafipour and Mehdi Sahmani}, booktitle={SpringerPlus}, year={2015} }