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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2017-01-01
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Series: | International Journal of Preventive Medicine |
Subjects: | |
Online Access: | http://www.ijpvmjournal.net/article.asp?issn=2008-7802;year=2017;volume=8;issue=1;spage=89;epage=89;aulast=Zamanfar |