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Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.
Oskarsson, Gudjon R; Oddsson, Asmundur; Magnusson, Magnus K; Kristjansson, Ragnar P; Halldorsson, Gisli H; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ivarsdottir, Erna V; Arnadottir, Gudny A; Jensson, Brynjar O; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdottir, Anna M; Lee, Amy L; Saemundsdottir, Jona; Stefansdottir, Lilja; Sigurdsson, Jon K; Davidsson, Olafur B; Benonisdottir, Stefania; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Jonsson, Stefan; Gudmundsson, Reynir L; Asselbergs, Folkert W; Tragante, Vinicius; Gunnarsson, Bjarni; Masson, Gisli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T; Gudbjartsson, Daniel F; Norddahl, Gudmundur L; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari.
Afiliação
  • Oskarsson GR; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Oddsson A; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
  • Magnusson MK; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Kristjansson RP; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Halldorsson GH; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
  • Ferkingstad E; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Zink F; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Helgadottir A; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Ivarsdottir EV; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Arnadottir GA; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Katrinardottir H; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Sveinbjornsson G; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Kristinsdottir AM; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Lee AL; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Saemundsdottir J; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Stefansdottir L; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Sigurdsson JK; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Davidsson OB; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Benonisdottir S; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Jonasdottir A; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Jonasdottir A; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Jonsson S; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Gudmundsson RL; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Asselbergs FW; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Tragante V; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Gunnarsson B; Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Masson G; Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, UK.
  • Thorleifsson G; Health Data Research UK and Institute of Health Informatics, University College London, London, UK.
  • Rafnar T; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Holm H; Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Olafsson I; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Onundarson PT; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Gudbjartsson DF; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Norddahl GL; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Thorsteinsdottir U; deCODE genetics/Amgen Inc., Reykjavik, Iceland.
  • Sulem P; Department of Clinical Biochemistry, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland.
  • Stefansson K; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Commun Biol ; 3(1): 189, 2020 04 23.
Article em En | MEDLINE | ID: mdl-32327693

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemoglobinas / Proteína 1 Reguladora do Ferro / Eritropoese / Mutação com Ganho de Função / Mutação com Perda de Função Tipo de estudo: Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Commun Biol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Islândia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemoglobinas / Proteína 1 Reguladora do Ferro / Eritropoese / Mutação com Ganho de Função / Mutação com Perda de Função Tipo de estudo: Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Commun Biol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Islândia