Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report

Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report

Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) i...

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Bibliographic Details
Main Authors: Masoumeh RAZIPOUR, Daniz KOOSHAVAR, Elaheh ALAVINEJAD, Seyede Zahra SAJEDI, Neda MOHAJER, Aria SETOODEH, Saeed TALEBI, Mohammad KERAMATIPOUR
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2017-04-01
Series:Iranian Journal of Public Health
Subjects:
Phenylketonurias
Phenylalanine hydroxylase
Mutation analysis
Iran
Online Access:https://ijph.tums.ac.ir/index.php/ijph/article/view/9767

Internet

https://ijph.tums.ac.ir/index.php/ijph/article/view/9767

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