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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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Publicado no: | Iran J Basic Med Sci |
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Main Authors: | , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Mashhad University of Medical Sciences
2015
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4556756/ https://ncbi.nlm.nih.gov/pubmed/26351554 |
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