Dystrophin analysis in duchenne and becker muscular dystrophy carriers: Correlation with intracellular calcium and albumin
β Scribed by Dr L. Morandi; M. Mora; E. Gussoni; S. Tedeschi; F. Cornelio
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 868 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
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Almost all of the thousands of pathogenic mutations which have been described in the dystrophin gene either reduce protein production or remove large regions of the protein. This has severely limited the use of mutational information for the functional dissection of the dystrophin protein and increa
We have analyzed 59 unrelated Mexican Duchenne/Becker muscular dystrophy patients (DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one (52%) of the patients had a deletion of one or several of the exons. Most of the alterations (87%) were clustered in exons 44-52,