Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis

Hum Mutat. 1997;9(4):356-8. doi: 10.1002/(SICI)1098-1004(1997)9:4<356::AID-HUMU9>3.0.CO;2-3.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Age of Onset
  • Amyotrophic Lateral Sclerosis / enzymology
  • Amyotrophic Lateral Sclerosis / genetics*
  • DNA Mutational Analysis
  • Genes / genetics
  • Humans
  • Male
  • Point Mutation / genetics*
  • Polymerase Chain Reaction / methods
  • Superoxide Dismutase / genetics*

Substances

  • Superoxide Dismutase