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Large in-frame 5’ deletions in DMD associated with mild Duchenne muscular dystrophy: two case reports and a review of the literature
Duchenne muscular dystrophy is caused by mutations in the dystrophin-encoding DMD gene. While Duchenne is most commonly caused by large intragenic deletions that cause frameshift and complete loss of dystrophin expression, in-frame deletions in DMD can result in the expression of internally truncate...
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| Vydáno v: | Neuromuscul Disord |
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| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7092699/ https://ncbi.nlm.nih.gov/pubmed/31672265 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2019.09.009 |
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