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Ataluren treatment of patients with nonsense mutation dystrophinopathy
Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. Methods: Randomized, double-blind, placebo-controlled study...
Autores principales: | Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P, Connolly, Anne M, Day, John W, Flanigan, Kevin M, Goemans, Nathalie, Jones, Kristi J, Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B, Russman, Barry, Ryan, Monique M, Tulinius, Mar, Voit, Thomas, Moore, Steven A, Lee Sweeney, H, Abresch, Richard T, Coleman, Kim L, Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik, Barth, Jay, Elfring, Gary L, Reha, Allen, Spiegel, Robert J, O'donnell, Michael W, Peltz, Stuart W, Mcdonald, Craig M, FOR THE PTC124-GD-007-DMD STUDY GROUP |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BlackWell Publishing Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241581/ https://www.ncbi.nlm.nih.gov/pubmed/25042182 http://dx.doi.org/10.1002/mus.24332 |
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