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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...

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Detalhes bibliográficos
Publicado no:Iran J Basic Med Sci
Main Authors: Bagheri, Morteza, Rad, Isa Abdi, Jazani, Nima Hosseini, Zarrin, Rasoul, Ghazavi, Ahad
Formato: Artigo
Idioma:Inglês
Publicado em: Mashhad University of Medical Sciences 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4556756/
https://ncbi.nlm.nih.gov/pubmed/26351554
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