Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy

BACKGROUND: Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common human dystrophinopathies with recessive X-linked inheritance. Dystrophin gene deletions and duplications are the most common mutations, followed by point mutations. The aim of this study is to characterize the mutatio...

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Detalles Bibliográficos
Autores principales: Triana-Fonseca, Paula, Parada-Márquez, Juan Fernando, Silva-Aldana, Claudia T, Zambrano-Arenas, Daniela, Arias-Gomez, Laura Lucia, Morales-Fonseca, Natalia, Medina-Méndez, Esteban, Restrepo, Carlos M, Silgado-Guzmán, Daniel Felipe, Fonseca-Mendoza, Dora Janeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8493106/
https://www.ncbi.nlm.nih.gov/pubmed/34629887
http://dx.doi.org/10.2147/TACG.S317721

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