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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require precise genetic diagnosis because most therapeutic strategies are mutation-specific. To understand more about the genotype-phenotype correlations of the DMD gene we performed a comprehensive analysis of the DMD muta...

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Detalles Bibliográficos
Autores principales: Juan-Mateu, Jonas, Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Baena, Manel, Verdura, Edgard, Nascimento, Andres, Ortez, Carlos, Baiget, Montserrat, Gallano, Pia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540588/
https://www.ncbi.nlm.nih.gov/pubmed/26284620
http://dx.doi.org/10.1371/journal.pone.0135189