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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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Détails bibliographiques
Auteurs principaux: Bellais, Samuel, Le Goff, Carine, Dagoneau, Nathalie, Munnich, Arnold, Cormier-Daire, Valérie
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2010
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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