A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient

Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):530-1. doi: 10.3109/21678421.2015.1058397. Epub 2015 Jul 22.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Disease Progression
  • Exons / genetics
  • Humans
  • Italy
  • Mutation, Missense
  • Nuclear Matrix-Associated Proteins / genetics*
  • RNA-Binding Proteins / genetics*
  • White People / genetics*

Substances

  • MATR3 protein, human
  • Nuclear Matrix-Associated Proteins
  • RNA-Binding Proteins