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Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies

Duchenne and Becker muscular dystrophy are X-linked recessive inherited disorders characterized by progressive weakness due to skeletal muscle degeneration. Different mutations in the DMD gene, which encodes for dystrophin protein, are responsible for these disorders. The aim of our study was to inv...

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Detalles Bibliográficos
Autores principales: Gaina, Gisela, Vossen, Rolf H. A. M., Manole, Emilia, Plesca, Doina Anca, Ionica, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8689184/
https://www.ncbi.nlm.nih.gov/pubmed/34950096
http://dx.doi.org/10.3389/fneur.2021.718396