Article
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
Nature - 4 Mar 1993
Rosen D R, Siddique T, Patterson D, Figlewicz D A, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan J P, Deng H X
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord. Its cause is unknown and it is uniformly fatal, typically within five years. About 10% of cases are inherited as an autosomal dominant trait, with high penetrance after the si...
Topics
- Amino Acid Sequence
- Amyotrophic Lateral Sclerosis
- Animals
- Base Sequence
- Codon
- DNA
- Exons
- Genome, Human
- Humans
- Isoenzymes
- Lod Score
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Oligodeoxyribonucleotides