Title : Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation.

Pub. Date : 1997 Dec

PMID : 9409355






2 Functional Relationships(s)
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Protein Name
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1 We detected a point mutation at codon 48 of the Cu/Zn superoxide dismutase gene (SOD1) leading to a substitution of histidine by glutamine in the copper-binding domain. Histidine superoxide dismutase 1 Homo sapiens
2 We detected a point mutation at codon 48 of the Cu/Zn superoxide dismutase gene (SOD1) leading to a substitution of histidine by glutamine in the copper-binding domain. Histidine superoxide dismutase 1 Homo sapiens