Nonsense mutations in a Becker muscular dystrophy and an intermediate patient
โ Scribed by Thomas W. Prior; Claire Bartolo; Audrey C. Papp; Pamela J. Snyder; Mary S. Sedra; Arthur H.M. Burghes; Jerry R. Mendell
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 334 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1059-7794
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Nonsense mutations are usually predicted to function as null alleles due to premature termination of protein translation. However, nonsense mutations in the DMD gene, encoding the dystrophin protein, have been associated with both the severe Duchenne Muscular Dystrophy (DMD) and milder Becker Muscul
## Communicated by Ulf Landegren Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two-thirds of DMD patients, with B60% carrying deletions and 5-10% carrying duplications. Most of the remaining
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