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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Bibliografski detalji
Glavni autori: Nicolas, Aurélie, Lucchetti-Miganeh, Céline, Yaou, Rabah Ben, Kaplan, Jean-Claude, Chelly, Jamel, Leturcq, France, Barloy-Hubler, Frédérique, Le Rumeur, Elisabeth
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2012
Teme:
Research
Online pristup: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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