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In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase

BACKGROUND: Spermine synthase (SMS) is a key enzyme controlling the concentration of spermidine and spermine in the cell. The importance of SMS is manifested by the fact that single missense mutations were found to cause Snyder-Robinson Syndrome (SRS). At the same time, currently there are no non-sy...

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Autors principals: Zhang, Zhe, Norris, Joy, Schwartz, Charles, Alexov, Emil
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3103547/
https://ncbi.nlm.nih.gov/pubmed/21647366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0020373
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