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

摘要

Mutation analysis of the superoxide dismutase geneSOD1in 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 dat