Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis

Mutations in the Cu, Zn superoxide dismutase ( SOD1) gene have been reported in some pedigrees with Familial Amyotrophic Lateral Sclerosis (FALS). We have investigated the functional and structural effects of a Gly→Ser mutation at codon 41 of SOD1 in a pedigree with FALS and the topography of SOD 1...

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Veröffentlicht in:Neuron (Cambridge, Mass.) Mass.), 1994-09, Vol.13 (3), p.727-736
Hauptverfasser: Tsuda, T., Munthasser, S., Fraser, P.E., Percy, M.E., Rainero, I., Vaula, G., Pinessi, L., Bergamini, L., Vignocchi, G., Crapper McLachlan, D.R., Tatton, W.G., St George-Hyslop, P.
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Sprache:eng
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