Novel FA2H mutation in a girl with familial spastic paraplegia

J Neurol Sci. 2015 Oct 15;357(1-2):332-4. doi: 10.1016/j.jns.2015.07.042. Epub 2015 Aug 29.
No abstract available

Keywords: Database; FA2H; New mutation; Nonsense; SPG35; Spastic paraplegias.

Publication types

  • Letter

MeSH terms

  • Child, Preschool
  • Codon, Nonsense / genetics*
  • Female
  • Humans
  • Mixed Function Oxygenases / genetics*
  • Spastic Paraplegia, Hereditary / diagnosis*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Codon, Nonsense
  • Mixed Function Oxygenases
  • fatty acid alpha-hydroxylase