A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

The cytokine erythropoietin (EPO), signalling through the EPO receptor (EPO-R), is essential for the formation of red blood cells. We performed a genome-wide association study (GWAS) testing 32.5 million sequence variants for association with serum EPO levels in a set of 4187 individuals. We detect...

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Bibliografiset tiedot
Julkaisussa:Commun Biol
Päätekijät: Oskarsson, Gudjon R., Kristjansson, Ragnar P., Lee, Amy L., Sveinbjornsson, Gardar, Magnusson, Magnus K., Ivarsdottir, Erna V., Benonisdottir, Stefania, Oddsson, Asmundur, Davidsson, Olafur B., Saemundsdottir, Jona, Halldorsson, Gisli H., Arthur, Joseph, Arnadottir, Gudny A., Masson, Gisli, Jensson, Brynjar O., Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2018
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6123817/
https://ncbi.nlm.nih.gov/pubmed/30271932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s42003-018-0053-3
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