✦ LIBER ✦

A novel nonsense mutation in the human dystrophin gene

✍ Scribed by F. A. Saad; G. Vita; M. Mora; L. Morandi; L. Vitiello; S. Oliviero; G. A. Danieli

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 250 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020413

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel point mutations in the dystrophin

Novel point mutations in the dystrophin gene

✍ Roberta Sitnik; Simone Campiotto; Mariz Vainzof; Rita C. Pavanello; Reinaldo I. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB 👁 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

Three novel point mutations in the dystr

Three novel point mutations in the dystrophin gene in DMD patients

✍ Adriana Lasa; Pia Gallano; Montserrat Baiget 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB 👁 2 views

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

Novel mutations and polymorphisms in the

Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

✍ Fawzy A. Saad; Maria L. Mostacciuolo; Carlo P. Trevisan; Giuliano Tomelleri; Cor 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 122 KB 👁 2 views

Mutation rates in the dystrophin gene: A

Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide

✍ Carolyn H. Buzin; Jinong Feng; Jin Yan; William Scaringe; Qiang Liu; Johan den D 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 207 KB 👁 1 views

## Communicated by Marc Greenblatt An analysis of mutations was performed in 141 Duchenne muscular dystrophy (DMD) patients previously found to be negative for large deletions by standard multiplex PCR assays. Comprehensive mutation scanning of all coding exons, adjacent intronic splice regions, a

A novel nonsense mutation (Q1291X) in ex

A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene

✍ D. Feldmann; F. Laroze; C. Troadec; A. Clement; G. Tournier; R. Couderc 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB

Novel nonsense mutation (C→A nt 10512) i

Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

✍ Prof. Maria Antonietta Melis; Francesco Muntoni; Milena Cau; Daniela Loi; Albert 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB

Communicated by F a d E Chehab