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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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Keegan, Niall P., Wilton, Steve D., Fletcher, Sue
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6804640/
https://ncbi.nlm.nih.gov/pubmed/31645977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0070-x
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