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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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Detalles Bibliográficos
Autores principales: Bagheri, Morteza, Rad, Isa Abdi, Jazani, Nima Hosseini, Zarrin, Rasoul, Ghazavi, Ahad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mashhad University of Medical Sciences 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556756/
https://www.ncbi.nlm.nih.gov/pubmed/26351554