𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of point mutations and polymorphisms in the dystrophin gene by SSCP analysis

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel point mutations in the dystrophin
✍ Roberta Sitnik; Simone Campiotto; Mariz Vainzof; Rita C. Pavanello; Reinaldo I. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 131 KB πŸ‘ 2 views

## 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

Identification of twenty-one new mutatio
✍ J.M. Montejo; M. MagallΓ³n; E. Tizzano; J. Solera πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 293 KB πŸ‘ 2 views

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