Article
Identification and characterization of a spinal muscular atrophy-determining gene.
Cell - 13 Jan 1995
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M
Abstract excerpt
Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive paralysis with muscular atrophy. The gene for SMA has been mapped to chromosome 5q13, where large-scale deletions have been reported. We descri...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Chromosome Mapping
- Chromosomes, Artificial, Yeast
- Chromosomes, Human, Pair 5
- Cyclic AMP Response Element-Binding Protein
- Electrophoresis, Gel, Pulsed-Field
- Exons
- Female
- Gene Deletion
- Genetic Markers
- Humans
- Male
- Molecular Sequence Data
- Multigene Family
- Mutation
- Nerve Tissue Proteins