A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome

Podobne knjige/članki

• Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase
  od: Peng, Yunhui, et al.
  Izdano: (2016)
• In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase
  od: Zhang, Zhe, et al.
  Izdano: (2011)
• Computational analysis of missense mutations causing Snyder-Robinson Syndrome
  od: Zhang, Zhe, et al.
  Izdano: (2010)
• A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome
  od: Becerra-Solano, L.E., et al.
  Izdano: (2009)
• Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
  od: Li, Chong, et al.
  Izdano: (2017)