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Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria

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 charact...

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Publicat a:Springerplus
Autors principals: Biglari, Alireza, Saffari, Fatemeh, Rashvand, Zahra, Alizadeh, Safarali, Najafipour, Reza, Sahmani, Mehdi
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4579200/
https://ncbi.nlm.nih.gov/pubmed/26413448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40064-015-1309-8
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