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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Springerplus
Egile Nagusiak: Biglari, Alireza, Saffari, Fatemeh, Rashvand, Zahra, Alizadeh, Safarali, Najafipour, Reza, Sahmani, Mehdi
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2015
Gaiak:
Research
Sarrera elektronikoa: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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