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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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Autori principali: Bellais, Samuel, Le Goff, Carine, Dagoneau, Nathalie, Munnich, Arnold, Cormier-Daire, Valérie
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2010
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Accesso online: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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