In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.

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-synonymous sin...

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Bibliographic Details
Main Authors: Zhe Zhang, Joy Norris, Charles Schwartz, Emil Alexov
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3103547?pdf=render