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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Detalles Bibliográficos
Autores principales: Biglari, Alireza, Saffari, Fatemeh, Rashvand, Zahra, Alizadeh, Safarali, Najafipour, Reza, Sahmani, Mehdi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579200/
https://www.ncbi.nlm.nih.gov/pubmed/26413448
http://dx.doi.org/10.1186/s40064-015-1309-8

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