title: Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis.
abstract: 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.
authors.affiliation: Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Kostrzewa
authors.forename: M S
authors.initials: MS
authors.lastname: Damian
authors.forename: U
authors.initials: U
authors.lastname: Müller
mesh_terms: D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics*; D003001:Cloning, Molecular; D017124:Conserved Sequence / Q000235:genetics; D017931:DNA Primers; D005260:Female; D006801:Humans; D015227:Lipid Peroxidation; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011487:Protein Conformation; D016415:Sequence Alignment; D013482:Superoxide Dismutase / Q000737:chemistry / Q000235:genetics*
chemical_list: D017931:DNA Primers; D013482:Superoxide Dismutase