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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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7605535/
https://ncbi.nlm.nih.gov/pubmed/33055427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.141523
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