spermine synthase isoform 1 [Homo sapiens]

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Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome. [BMC Med Genet. 2020]
Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.
Qazi TJ, Wu Q, Aierken A, Lu D, Bukhari I, Hussain HMJ, Yang J, Mir A, Qing H. BMC Med Genet. 2020 Aug 24; 21(1):168. Epub 2020 Aug 24.
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase. [Int J Mol Sci. 2016]
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
Peng Y, Norris J, Schwartz C, Alexov E. Int J Mol Sci. 2016 Jan 8; 17(1). Epub 2016 Jan 8.
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. [Am J Med Genet A. 2013]
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.
Peron A, Spaccini L, Norris J, Bova SM, Selicorni A, Weber G, Wood T, Schwartz CE, Mastrangelo M. Am J Med Genet A. 2013 Sep; 161A(9):2316-20. Epub 2013 Jul 29.

RefSeq genomic sequence
See the genomic reference sequence for the SMS gene (NG_009228.1).
RefSeq mRNA
See reference mRNA sequence for the SMS gene (NM_004595.5).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the SMS gene.

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NP_004586 [Domain Mapping of Disease Mut...]
NP_004586
Domain Mapping of Disease Mutations
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Ensembl
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
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reagents [ExactAntigen/Labome]
reagents
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Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

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