Article
An intact cysteine-rich domain is required for dystrophin function.
The Journal of clinical investigation - 1 Aug 1992
Bies R D, Caskey C T, Fenwick R
Abstract excerpt
The carboxyl terminus of dystrophin is encoded by a highly conserved, alternatively spliced region of the gene. The few rare mutations reported in this region are of interest in unraveling the function of the dystrophin molecule. An unusual case of infantile onset Duchenne muscular dystrophy (DMD) with an internal 3' genomic deletion, and a membrane localized non-functional dystrophin protein, was used to explore...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Deletion
- Cysteine
- Dystrophin
- Gene Expression
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction