𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel 3678delA mutation in exon 26 of the dystrophin gene causing duchenne muscular dystrophy

✍ Scribed by Alka Agarwal-Mawal; Michel Vanasse; Louise R. Simard


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
232 KB
Volume
11
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


DGGE-based whole-gene mutation scanning
✍ Robert M.W. Hofstra; Inge M. Mulder; Rolf Vossen; Pia A. M. de Koning-Gans; Mari πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 224 KB

## 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

Characterization of a complex Duchenne m
✍ Heidi R. Madden; Sue Fletcher; Mark R. Davis; Steve D. Wilton πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 268 KB

Out of three mutations in the dystrophin gene that cause Duchenne muscular dystrophy (DMD), the most common, serious childhood muscle wasting disease, two are genomic deletions of one or more exons that disrupt the reading frame. Specific removal of an exon flanking a genomic deletion using antisens

Newly recognized exons induced by a spli
✍ Makoto Ikezawa; Ichizo Nishino; Yu-ichi Goto; Teruhisa Miike; Ikuya Nonaka πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 25 KB πŸ‘ 2 views

A boy with the clinical phenotype of Duchenne muscular dystrophy had no detectable deletion or duplication in the dystrophin gene by the routine multiplex PCR method. In mRNA extracted from his muscle biopsy, newly recognized extra-exons of 172 bp and 202 bp were present between exon 25 and 26 sugge