SUPEROXIDE-DISMUTASE-1 - IDENTIFICATION OF A NOVEL MUTATION IN A CASEOF FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS

Authors
KOSTRZEWA M DAMIAN MS MULLER U
Citation
M. Kostrzewa et al., SUPEROXIDE-DISMUTASE-1 - IDENTIFICATION OF A NOVEL MUTATION IN A CASEOF FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS, Human genetics, 98(1), 1996, pp. 48-50
Citations number
17
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
98
Issue
1
Year of publication
1996
Pages
48 - 50
Database
ISI
SICI code
0340-6717(1996)98:1<48:S-IOAN>2.0.ZU;2-0
Abstract
Mutation analysis of the superoxide dismutase gene SOD1 in a familial case of amyotrophic lateral sclerosis revealed a T-->C transition at c odon 151 of exon 5. This mutation results in the substitution of an is oleucine for a threonine. It appears to affect formation of dimers of the protein and is the most C-terminal amino acid change in SOD1 descr ibed to date.