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Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies

Becker muscular dystrophy is caused by mutations in the DMD gene that permit significant residual dystrophin protein expression in patient muscle. This is in contrast to DMD gene mutations in Duchenne muscular dystrophy where little or no dystrophin is produced (typically < 3% normal levels). Cli...

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Vydáno v:Acta Myol
Hlavní autor: Hoffman, Eric P.
Médium: Artigo
Jazyk:Inglês
Vydáno: Pacini Editore Srl 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7783439/
https://ncbi.nlm.nih.gov/pubmed/33458572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.36185/2532-1900-020
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