Article
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
Human mutation - 1 Jan 1994
Roberts R G, Gardner R J, Bobrow M
Abstract excerpt
The past few years have seen a rapid increase in our knowledge of naturally occurring mutations in the dystrophin gene. Although earlier studies were limited to gross rearrangement mutations, we are now in a position to draw lessons on the molecular etiology of the remaining one-third of cases of Duchenne and Becker muscular dystrophy (DMD, BMD) which are associated with small mutations. This paper reviews 70...
Topics
- DNA
- DNA Mutational Analysis
- Dystrophin
- Genetic Techniques
- Humans
- Muscular Dystrophies
- Peptide Chain Termination, Translational
- Phenotype
- Point Mutation
- RNA, Messenger