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Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency
Ornithine transcarbamylase (OTC) (E.C. 2.1.3.3) is one of the enzymes in the urea cycle, which involves in a sequence of reactions in the liver cells. During protein assimilation in our body surplus nitrogen is made, this open nitrogen is altered into urea and expelled out of the body by kidneys, in...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer Berlin Heidelberg
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235886/ https://www.ncbi.nlm.nih.gov/pubmed/28324312 http://dx.doi.org/10.1007/s13205-014-0216-y |