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In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome
The Stüve–Wiedemann Syndrome (SWS) is a frequently lethal chondrodysplasia caused by null mutations in the leukemia inhibitory factor receptor gene (LIFR) responsible for an impaired activation of the JAK–STAT pathway after LIF stimulation. Most LIFR mutations are nonsense mutations, thus prompting...
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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group
2010
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2987166/ https://ncbi.nlm.nih.gov/pubmed/19603067 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.122 |
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