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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Detalles Bibliográficos
Autores principales: Zamanfar, Daniel, Jalali, Hossein, Mahdavi, Mohammad Reza, Maadanisani, Morteza, Zaeri, Hossein, Asadpoor, Eynollah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686925/
https://www.ncbi.nlm.nih.gov/pubmed/29184640
http://dx.doi.org/10.4103/ijpvm.IJPVM_378_16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686925/
https://www.ncbi.nlm.nih.gov/pubmed/29184640
http://dx.doi.org/10.4103/ijpvm.IJPVM_378_16

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