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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Iran J Basic Med Sci
Prif Awduron: Bagheri, Morteza, Rad, Isa Abdi, Jazani, Nima Hosseini, Zarrin, Rasoul, Ghazavi, Ahad
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Mashhad University of Medical Sciences 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4556756/
https://ncbi.nlm.nih.gov/pubmed/26351554
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