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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181819/
https://www.ncbi.nlm.nih.gov/pubmed/32327693
http://dx.doi.org/10.1038/s42003-020-0921-5

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