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 t...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2012-07-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://www.ojrd.com/content/7/1/45 |