Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis
- 30 May 1996
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 98 (1) , 48-50
- https://doi.org/10.1007/s004390050157
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.Keywords
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