Small Mutations of the DMD Gene in Taiwanese Families
โ Scribed by Hsiao-Lin Hwa; Yih-Yuan Chang; Chien-Hao Huang; Chung-Hsiung Chen; Yen-Shi Kao; Yuh-Jyh Jong; Mei-Chyn Chao; Tsang-Ming Ko
- Book ID
- 117630407
- Publisher
- Chinese Electronic Periodical Services
- Year
- 2008
- Tongue
- English
- Weight
- 214 KB
- Volume
- 107
- Category
- Article
- ISSN
- 0929-6646
No coin nor oath required. For personal study only.
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Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of
Analysis of Bulgarian Duchenne/Becker muscular dystrophy (DMD/BMD) patients has demonstrated that deletions spanning exon 4 or exon 48 of the dystrophin gene account for about half of all patients, and that female relatives from these families constitute nearly 40% of all patients who require diagno