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A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleterious effects of hyperphenylalaninemia, but adherence...

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Detalles Bibliográficos
Autores principales:	Koppes, Erik A., Redel, Bethany K., Johnson, Marie A., Skvorak, Kristen J., Ghaloul-Gonzalez, Lina, Yates, Megan E., Lewis, Dale W., Gollin, Susanne M., Wu, Yijen L., Christ, Shawn E., Yerle, Martine, Leshinski, Angela, Spate, Lee D., Benne, Joshua A., Murphy, Stephanie L., Samuel, Melissa S., Walters, Eric M., Hansen, Sarah A., Wells, Kevin D., Lichter-Konecki, Uta, Wagner, Robert A., Newsome, Joseph T., Dobrowolski, Steven F., Vockley, Jerry, Prather, Randall S., Nicholls, Robert D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605535/ https://www.ncbi.nlm.nih.gov/pubmed/33055427 http://dx.doi.org/10.1172/jci.insight.141523

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