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2348 Lafora disease premature termination codons (PTCs) are likely candidates for suppression by aminoglycosides
OBJECTIVES/SPECIFIC AIMS: A small molecule therapy is within reach to treat a molecular mechanism known to result in thousands of fatal diseases. For 10% of patients with a genetic disease, a nonsense/STOP mutation/premature termination codon (PTC) is the underlying cause of their malady. PTCs prema...
Uloženo v:
| Vydáno v: | J Clin Transl Sci |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Cambridge University Press
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6799663/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/cts.2018.90 |
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