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Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran
OBJECTIVE(S): Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (PAH), which leads to elevated levels of Phe in the blood. The present study was carried out for mutation analysis of the PAH...
Autores principales: | Bagheri, Morteza, Rad, Isa Abdi, Jazani, Nima Hosseini, Zarrin, Rasoul, Ghazavi, Ahad |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Mashhad University of Medical Sciences
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556756/ https://www.ncbi.nlm.nih.gov/pubmed/26351554 |
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