Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

BACKGROUND: Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplications account for approximately 75% of mutations in DMD and 85% in BMD. The impl...

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Detalles Bibliográficos
Autores principales: Magri, Francesca, Del Bo, Roberto, D'Angelo, Maria G, Govoni, Alessandra, Ghezzi, Serena, Gandossini, Sandra, Sciacco, Monica, Ciscato, Patrizia, Bordoni, Andreina, Tedeschi, Silvana, Fortunato, Francesco, Lucchini, Valeria, Cereda, Matteo, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061890/
https://www.ncbi.nlm.nih.gov/pubmed/21396098
http://dx.doi.org/10.1186/1471-2350-12-37

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