Article
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
American journal of human genetics - 1 Mar 1995
Pramatarova A, Figlewicz D A, Krizus A, Han F Y, Ceballos-Picot I, Nicole A, Dib M, Meininger V, Brown R H, Rouleau G A
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder affecting motor neurons. Although most cases of ALS are sporadic, approximately 10% are inherited as an autosomal dominant trait. Mutations in the Cu/Zn superoxide dismutase gene (SOD 1) are responsible for a fraction of fa...
Topics
- Amino Acid Sequence
- Amyotrophic Lateral Sclerosis
- Base Sequence
- Copper
- DNA
- Exons
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational