A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease

Hum Mutat. 1997;9(1):69-71. doi: 10.1002/(SICI)1098-1004(1997)9:1<69::AID-HUMU14>3.0.CO;2-N.
No abstract available

Publication types

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

MeSH terms

  • Aged
  • Female
  • Humans
  • Male
  • Middle Aged
  • Motor Neuron Disease / genetics*
  • Pedigree
  • Point Mutation*
  • Superoxide Dismutase / genetics*

Substances

  • Superoxide Dismutase