Spermine synthase
Definition:
References:
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[1]. Zhe Zhang, et al. A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet. 2013 Sep 15;22(18):3789-97. [Content Brief]
[2]. Hong Wu, et al. Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism. J Biol Chem. 2008 Jun 6;283(23):16135-46. [Content Brief]
[3]. Angela Peron, et al. Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet A. 2013 Sep;161A(9):2316-20. [Content Brief]
[4]. G de Alencastro, et al. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. J Med Genet. 2008 Aug;45(8):539-43. [Content Brief]
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