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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Bibliographic Details
Main Authors: Bellais, Samuel, Le Goff, Carine, Dagoneau, Nathalie, Munnich, Arnold, Cormier-Daire, Valérie
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2010
Subjects:
Short Report
Online Access: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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