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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Veröffentlicht in:Iran J Basic Med Sci
Hauptverfasser: Bagheri, Morteza, Rad, Isa Abdi, Jazani, Nima Hosseini, Zarrin, Rasoul, Ghazavi, Ahad
Format: Artigo
Sprache:Inglês
Veröffentlicht: Mashhad University of Medical Sciences 2015
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4556756/
https://ncbi.nlm.nih.gov/pubmed/26351554
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