Article
Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry.
Journal of neuroscience methods - 1 Jun 1998
Nakanishi T, Kishikawa M, Miyazaki A, Shimizu A, Ogawa Y, Sakoda S, Ohi T, Shoji H
Abstract excerpt
Mutations in Cu/Zn superoxide dismutase (SOD1) cause a subset of cases of familial amyotrophic lateral sclerosis (FALS). We established a simple and defined method to detect the mutant SODI in erythrocytes by electrospray ionization mass spectrometry (ESIMS) using materials precipitated with spec...
Topics
- Amino Acid Substitution
- Amyotrophic Lateral Sclerosis
- DNA
- DNA Mutational Analysis
- Erythrocytes
- Genetic Testing
- Humans
- Mass Spectrometry
- Mutation
- Precipitin Tests
- Superoxide Dismutase