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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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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Keegan, Niall P., Wilton, Steve D., Fletcher, Sue
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
Fag:
Online adgang: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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