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A New Mouse Model of Mild Ornithine Transcarbamylase Deficiency (spf-j) Displays Cerebral Amino Acid Perturbations at Baseline and upon Systemic Immune Activation

Ornithine transcarbamylase deficiency (OTCD, OMIM# 311250) is an inherited X-linked urea cycle disorder that is characterized by hyperammonemia and orotic aciduria. In this report, we describe a new animal model of OTCD caused by a spontaneous mutation in the mouse Otc gene (c.240T>A, p.K80N). Th...

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Detalles Bibliográficos
Autores principales:	Tarasenko, Tatyana N., Rosas, Odrick R., Singh, Larry N., Kristaponis, Kara, Vernon, Hilary, McGuire, Peter J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315515/ https://www.ncbi.nlm.nih.gov/pubmed/25647322 http://dx.doi.org/10.1371/journal.pone.0116594

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