Article
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
Nature genetics - 1 May 1995
Andersen P M, Nilsson P, Ala-Hurula V, Keränen M L, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L, Marklund S L
Abstract excerpt
Recent reports have shown heterozygosity for some twenty different mutations in the CuZn-superoxide dismutase (CuZn-SOD) gene in familial amyotrophic lateral sclerosis (FALS), and analysed samples from patients have shown decreased enzymic activity. Here we report homozygosity for an exon 4 mutat...
Topics
- Adult
- Aged
- Amyotrophic Lateral Sclerosis
- Base Sequence
- Erythrocytes
- Exons
- Female
- Homozygote
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Superoxide Dismutase