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    Hum Genet. 1996 Jul;98(1):48-50.

    Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis.

    Kostrzewa M, Damian MS, Müller U.

    Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.

    Mutation analysis of the superoxide dismutase gene SOD1 in a familial case of amyotrophic lateral sclerosis revealed a T --> C transition at codon 151 of exon 5. This mutation results in the substitution of an isoleucine for a threonine. It appears to affect formation of dimers of the protein and is the most C-terminal amino acid change in SOD1 described to date.

    PMID: 8682505 [PubMed - indexed for MEDLINE]

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