A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree

BACKGROUND: Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations. Through this study, a novel mutation in the PAH gene in an Iranian pedigree with phenylketonuria was introduced. METHODS:...

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Detalles Bibliográficos
Autores principales: Alavinejad, Elaheh, Sajedi, Seyede Zahra, Razipour, Masoumeh, Entezam, Mona, Mohajer, Neda, Setoodeh, Aria, Talebi, Saeed, Keramatipour, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501143/
https://www.ncbi.nlm.nih.gov/pubmed/28706611

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501143/
https://www.ncbi.nlm.nih.gov/pubmed/28706611

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