Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort

Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC). Mutation analysis has traditionally been challenging, due to the large gene size (79...

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Main Authors: Flanigan, Kevin M., Dunn, Diane, von Niederhausern, Andrew, Soltanzadeh, Payam, Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda, Mendell, Jerry, Wall, Cheryl, King, Wendy, Pestronk, Alan, Florence, Julaine, Connolly, Anne, Mathews, Katherine D., Stephan, Carrie, Laubenthal, Karla, Wong, Brenda, Morehart, Paula, Meyer, Amy, Finkel, Richard, Bonnemann, Carsten G., Medne, Livija, Day, John W., Dalton, Joline C., Margolis, Marcia, Hinton, Veronica, Weiss, Robert B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3404892/
https://ncbi.nlm.nih.gov/pubmed/19937601
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21114
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