First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population

INTRODUCTION: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%). CASE PRESENTATION...

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Bibliografiske detaljer
Udgivet i:	Iran Red Crescent Med J
Main Authors:	Soltani, Ziba, Karami, Fatemeh, Yassaee, Vahidreza, Hashemi Gorji, Feyzollah, Talebzadeh, Mahdieh, Miryounesi, Mohammad
Format:	Artigo
Sprog:	Inglês
Udgivet:	Kowsar 2016
Fag:	Case Report
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC4862320/ https://ncbi.nlm.nih.gov/pubmed/27175306 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5812/ircmj.21633
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First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population

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