Investigation of five common mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran

Background: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation of untreated patients is severe mental retard...

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Detalhes bibliográficos

Principais autores:	Daniel Zamanfar, Hossein Jalali, Mohammad Reza Mahdavi, Morteza Maadanisani, Hossein Zaeri, Eynollah Asadpoor
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wolters Kluwer Medknow Publications 2017-01-01
coleção:	International Journal of Preventive Medicine
Assuntos:	Mutation phenylalanine hydroxylase phenylketonuria
Acesso em linha:	http://www.ijpvmjournal.net/article.asp?issn=2008-7802;year=2017;volume=8;issue=1;spage=89;epage=89;aulast=Zamanfar
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