A novel noncontiguous duplication in the DMD gene escapes the ‘reading-frame rule’-Reference-Cited by-同舟云学术

A novel noncontiguous duplication in the DMD gene escapes the ‘reading-frame rule’

Published:2014-04 Issue:1 Volume:93 Page:225-229
ISSN:0022-1333
Container-title:Journal of Genetics
language:en
Short-container-title:J Genet

Author:

LÓPEZ-HERNÁNDEZ LUZ BERENICE,GÓMEZ-DÍAZ BENJAMÍN,BAHENA-MARTÍNEZ ELIGANTY,NERI-GÓMEZ TERESA,CAMACHO-MOLINA ALEJANDRA,RUANO-CALDERÓN LUIS A.,GARCÍA SILVIA,CORAL-VÁZQUEZ RAMÓN M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://link.springer.com/content/pdf/10.1007/s12041-014-0345-4.pdf

Reference23 articles.

1. Coral-Vazquez R., Arenas D., Cisneros B., Penaloza L., Salamanca F., Kofman S., Mercado R. and Montanez C. 1997 Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: the use of new designed primers for the analysis of the major deletion “hot spot” region. Am. J. Med. Genet. 70, 240–246.

2. Desguerre I., Christov C., Mayer M., Zeller R., Becane H. M., Bastuji-Garin S. et al. 2009 Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One 4, e4347.

3. Fenollar-Cortes M., Gallego-Merlo J., Trujillo-Tiebas M. J., Lorda-Sanchez I. and Ayuso C. 2008 Two non-contiguous duplications in the DMD gene in a Spanish family. J. Neurogenet. 22, 93–101.

4. Gentil C., Leturcq F., Ben Yaou R., Kaplan J. C., Laforet P., Penisson-Besnier I. et al. 2012 Variable phenotype of del45-55 Becker patients correlated with nNOSmu mislocalization and RYR1 hypernitrosylation. Hum. Mol. Genet. 21, 3449–3460.

5. Gomez-Diaz B., Rosas-Vargas H., Roque-Ramirez B., Meza-Espinoza P., Ruano-Calderon L. A., Fernandez-Valverde F. et al. 2012 Immunodetection analysis of muscular dystrophies in Mexico. Muscle Nerve 45, 338–345.

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies;International Journal of Molecular Sciences;2015-03-09

2. Novel Non-contiguous Duplications in theDMDGene in Five Patients with Duchenne Muscular Dystrophy;Laboratory Medicine Online;2015