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.
Folz
R J
RJ
Department of Medicine, Duke University Medical Center, Durham, NC 27710.
Peno-Green
L
L
Crapo
J D
JD
D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D001665:Binding Sites; D005109:Extracellular Matrix / Q000201:enzymology; D005260:Female; D005998:Glycine; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D013482:Superoxide Dismutase / Q000097:blood* / Q000235:genetics*
D001120:Arginine; D013482:Superoxide Dismutase; D005998:Glycine