Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others

Hum Mol Genet. 1994 Apr;3(4):649-50. doi: 10.1093/hmg/3.4.649.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Base Sequence
  • DNA Mutational Analysis
  • DNA, Single-Stranded / genetics
  • Exons
  • Genes
  • Humans
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Silver Staining
  • Superoxide Dismutase / genetics*

Substances

  • DNA, Single-Stranded
  • Superoxide Dismutase