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Reference Materials
Edystrophin
source: eDystrophin
summary/abstract:eDystrophin is a database dedicated to human dystrophin variants produced by in-frame DMD gene mutations. This website takes you from the GENE to the PROTEINS through structural investigation and visualization. It is a locus specific database for in-frame mutations and single-nucleotide polymorphism (SNPs) found in the DMD gene and the associated dystrophin variants.
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rareRelated
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Exon Skipping Explained from Sarepta Therapeuticshttps://player.vimeo.com/video/238953537...
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PTC Therapeutics Announces Initial Data from Patient Registry Demonstrating Translarna™ (ataluren) Slows Disease P...PTC Therapeutics, Inc. today announced p...
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Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance ...Background Duchenne (DMD) and Becker (B...
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DMD geneDMD, the largest known human gene, provi...
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A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)This study is designed to evaluate the a...
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PTC Therapeutics Phase III Duchenne Muscular Dystrophy (DMD) Clinical TrialPTC Therapeutics, Inc. is seeking pati...
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Duchenne Muscular Dystrophy and Dystrophinhttps://www.youtube.com/watch?v=Ebu8W8Os...