Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

BACKGROUND: Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in the deletion of one or several exons and cause Duchenne (DMD) and Becker (BMD...

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Detalhes bibliográficos
Main Authors: Nicolas, Aurélie, Lucchetti-Miganeh, Céline, Yaou, Rabah Ben, Kaplan, Jean-Claude, Chelly, Jamel, Leturcq, France, Barloy-Hubler, Frédérique, Le Rumeur, Elisabeth
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3748829/
https://ncbi.nlm.nih.gov/pubmed/22776072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-45
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