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

• Main Authors: Masoumeh RAZIPOUR (Author), Daniz KOOSHAVAR (Author), Elaheh ALAVINEJAD (Author), Seyede Zahra SAJEDI (Author), Neda MOHAJER (Author), Aria SETOODEH (Author), Saeed TALEBI (Author), Mohammad KERAMATIPOUR (Author)
• Format: Book
• Published: Tehran University of Medical Sciences, 2017-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...