Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

Nonsense mutations are usually predicted to function as null alleles due to premature termination of protein translation. However, nonsense mutations in the DMD gene, encoding the dystrophin protein, have been associated with both the severe Duchenne Muscular Dystrophy (DMD) and milder Becker Muscul...

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Hauptverfasser: Flanigan, Kevin M., Dunn, Diane M., von Niederhausern, Andrew, Soltanzadeh, Payam, Howard, Michael T., Sampson, Jacinda B., Swoboda, Kathryn J., Bromberg, Mark B., Mendell, Jerry R., Taylor, Laura, Anderson, Christine B., Pestronk, Alan, Florence, Julaine, Connolly, Anne M., Mathews, Katherine D., Wong, Brenda, Finkel, Richard S., Bonnemann, Carsten G., Day, John W., McDonald, Craig, Weiss, Robert B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3724403/
https://ncbi.nlm.nih.gov/pubmed/21972111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21426
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