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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Springerplus
Hauptverfasser: Biglari, Alireza, Saffari, Fatemeh, Rashvand, Zahra, Alizadeh, Safarali, Najafipour, Reza, Sahmani, Mehdi
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2015
Schlagworte:
Online Zugang: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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