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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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Dettagli Bibliografici
Pubblicato in:Hum Genome Var
Autori principali: Keegan, Niall P., Wilton, Steve D., Fletcher, Sue
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2019
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Accesso online: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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