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

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Title: A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Authors: Oskarsson, Gudjon R.1, Kristjansson, Ragnar P.1 ragnar.kristjansson@decode.is, Lee, Amy L.1, Sveinbjornsson, Gardar1, Magnusson, Magnus K.1,2, Ivarsdottir, Erna V.1,3, Benonisdottir, Stefania1, Oddsson, Asmundur1, Davidsson, Olafur B.1, Saemundsdottir, Jona1, Halldorsson, Gisli H.1, Arthur, Joseph1, Arnadottir, Gudny A.1, Masson, Gisli1, Jensson, Brynjar O.1, Holm, Hilma1, Olafsson, Isleifur4, Onundarson, Pall T.5, Gudbjartsson, Daniel F.1,3, Norddahl, Gudmundur L.1
Source: Communications Biology. 12/1/2018, Vol. 1 Issue 1, pN.PAG-N.PAG. 1p.
Database: Academic Search Ultimate
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ISSN:23993642
DOI:10.1038/s42003-018-0053-3