Identification of point mutations and polymorphisms in the dystrophin gene by SSCP analysis
β Scribed by A. Lasa; P. Gallano; M. Baiget
- Book ID
- 116168832
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 113 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0960-8966
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## Communicated by Martin Bobrow Duchenne (DMD) and Becker (BMD) type muscular dystrophies are allelic X-linked recessive disorders caused by mutations in the gene encoding dystrophin. About 65% of the cases are caused by deletions, while 5-10% are duplications. The remaining 30% of affected indiv
In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequencing of all fragments showing abnormal migration. In 76 patients (90.4%), it