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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Detaylı Bibliyografya
Yayımlandı:Commun Biol
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2018
Konular:
Article
Online Erişim: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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