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CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria

Phenylketonuria (PKU) is an autosomal recessive inborn error of l-phenylalanine (Phe) metabolism. It is caused by a partial or complete deficiency of the enzyme phenylalanine hydroxylase (PAH), which is necessary for conversion of Phe to tyrosine (Tyr). This metabolic error results in buildup of Phe...

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Detalles Bibliográficos
Autores principales:	Singh, Kuldeep, Cornell, Cathleen S., Jackson, Robert, Kabiri, Mostafa, Phipps, Michael, Desai, Mitul, Fogle, Robert, Ying, Xiaoyou, Anarat-Cappillino, Gulbenk, Geller, Sarah, Johnson, Jennifer, Roberts, Errin, Malley, Katie, Devlin, Tim, DeRiso, Matthew, Berthelette, Patricia, Zhang, Yao V., Ryan, Susan, Rao, Srinivas, Thurberg, Beth L., Bangari, Dinesh S., Kyostio-Moore, Sirkka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012645/ https://www.ncbi.nlm.nih.gov/pubmed/33790381 http://dx.doi.org/10.1038/s41598-021-86663-8

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