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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Detalles Bibliográficos
Autores principales: RAZIPOUR, Masoumeh, KOOSHAVAR, Daniz, ALAVINEJAD, Elaheh, SAJEDI, Seyede Zahra, MOHAJER, Neda, SETOODEH, Aria, TALEBI, Saeed, KERAMATIPOUR, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5439047/
https://www.ncbi.nlm.nih.gov/pubmed/28540274

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