A mutation that creates a pseudoexon in SOD1 causes familial ALS

Ann Hum Genet. 2009 Nov;73(Pt 6):652-7. doi: 10.1111/j.1469-1809.2009.00546.x.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Base Sequence
  • Chromosomes, Human, Pair 21
  • Exons
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Superoxide Dismutase / genetics*

Substances

  • SOD1 G37R protein, mouse
  • Superoxide Dismutase