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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Springerplus
Päätekijät: Biglari, Alireza, Saffari, Fatemeh, Rashvand, Zahra, Alizadeh, Safarali, Najafipour, Reza, Sahmani, Mehdi
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer International Publishing 2015
Aiheet:
Linkit: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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