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

<p>Abstract</p> <p>Background</p> <p>Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the <it>DMD</it> gene, which encodes dystrophin, mostly result in the deletion of one or several exons and ca...

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Autori principali:	Nicolas Aurélie, Lucchetti-Miganeh Céline, Yaou Rabah, Kaplan Jean-Claude, Chelly Jamel, Leturcq France, Barloy-Hubler Frédérique, Le Rumeur Elisabeth
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2012-07-01
Serie:	Orphanet Journal of Rare Diseases
Soggetti:	Dystrophin <it>DMD</it> gene mutations Spectrin-like repeats Duchenne muscular dystrophy Becker muscular dystrophy Phenotype-genotype correlation
Accesso online:	http://www.ojrd.com/content/7/1/45
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