Mutational landscape of phenylketonuria in Iran

To date more than 1000 different variants in the PAH gene have been identified in patients with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the genetics bases of the PKU in different parts of the country. In this study, we have analysed and present an update of...

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Detalles Bibliográficos
Autores principales: Ajami, Naser, Soleimani, Anvar, Jafarzadeh‐Esfehani, Reza, Hasanpour, Mojtaba, Rashid Shomali, Romina, Abbaszadegan, Mohammad Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468661/
https://www.ncbi.nlm.nih.gov/pubmed/37525467
http://dx.doi.org/10.1111/jcmm.17865

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468661/
https://www.ncbi.nlm.nih.gov/pubmed/37525467
http://dx.doi.org/10.1111/jcmm.17865

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