KEGG   VARIANT: 6611v1
Entry
6611v1                      Variant                                
Name
SMS deficiency
Type
Loss of function
Gene
SMS  spermine synthase [KO:K00802]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300105
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H00597  Snyder-Robinson syndrome
Reference
PMID:19206178
  Authors
Becerra-Solano LE, Butler J, Castaneda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sanchez-Corona J, Garcia-Ortiz JE
  Title
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
  Journal
Am J Med Genet A 149A:328-35 (2009)
DOI:10.1002/ajmg.a.32641
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