Article
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.
Human mutation - 1 Jan 1999
Dubourg C, Odent S, Fergelot P, Le Gall J Y, David V, Blayau M
Abstract excerpt
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked neuromuscular disorders associated with alterations in the dystrophin gene. Analysis of 45 DMD/BMD patients has identified 18 patients with no deletion in the dystrophin gene. Heteroduplex analysis (HD), single strand conformation analysis (SSCA), and subsequent sequencing, identified five mutations and nine polymorphisms. Three...
Topics
- Dystrophin
- Genetic Linkage
- Genetic Testing
- Humans
- Muscular Dystrophies
- Mutation
- Nucleic Acid Heteroduplexes
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational