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• W2038372259 abstract "We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case." @default.
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• W2038372259 date "2001-10-01" @default.
• W2038372259 modified "2023-10-07" @default.
• W2038372259 title "Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation" @default.
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• W2038372259 doi "https://doi.org/10.1016/s0304-3940(01)02212-1" @default.
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