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Breakpoint junction features of seven DMD deletion mutations

Duchenne muscular dystrophy is an inherited muscle wasting disease with severe symptoms and onset in early childhood. Duchenne muscular dystrophy is caused by loss-of-function mutations, most commonly deletions, within the DMD gene. Characterizing the junction points of large genomic deletions facil...

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Detalles Bibliográficos
Autores principales: Keegan, Niall P., Wilton, Steve D., Fletcher, Sue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804640/
https://www.ncbi.nlm.nih.gov/pubmed/31645977
http://dx.doi.org/10.1038/s41439-019-0070-x