Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels

Hum Mol Genet. 1994 Dec;3(12):2251-4. doi: 10.1093/hmg/3.12.2251.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Arginine
  • Base Sequence
  • Binding Sites
  • Extracellular Matrix / enzymology
  • Female
  • Glycine
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation / genetics*
  • Superoxide Dismutase / blood*
  • Superoxide Dismutase / genetics*

Substances

  • Arginine
  • Superoxide Dismutase
  • Glycine