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Superoxide dismutase (glu100 → gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers
1995
Neuroscience Letters
Superoxide dismutase glu 1°° ~ gly, a mutation known to be associated with familial motor neuron disease (familial amyotrophic lateral sclerosis) has beea detected in one symptomatic and five of seven asymptomatic members of a family with a history of this disease. On average, the individuals with the mutation had 75% of normal red blood cell superoxide dismutase activity. Native polyacrylamide gels stained for superoxide dismutase activity showed two abnormal bands in the family members
doi:10.1016/0304-3940(95)11476-d
pmid:7624031
fatcat:qvaysjt75nf6zjqejotccsceye