Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of hemoglobin concentration using a combined set of 684,...

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Publicado no:Commun Biol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7181819/
https://ncbi.nlm.nih.gov/pubmed/32327693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s42003-020-0921-5
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