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

1 December 1994

journal article
research article
Published by Oxford University Press (OUP) in Human Molecular Genetics

Vol. 3 (12) , 2251-2254
https://doi.org/10.1093/hmg/3.12.2251

Abstract

Rodney J. Folz, Laura Peno-Green, James D. Crapo; Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-

Keywords

ENZYME
MISSENSE MUTATION