Slowly progressing amyotrophic lateral sclerosis caused by H46R SOD1 mutation.
Holmøy
Trygve
T
Bjørgo
Kathrine
K
Roos
Per M
PM
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D001120:Arginine / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005192:Family Health; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D006639:Histidine; D001120:Arginine; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1