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; et al. (Communications biology, 2020)
Keywords: 45; 45/23; 45/43; 631/208/205/2138; 631/208/457/649/2219; 692/308/2056; Biology; Biomarkers - blood; Biomedical and Life Sciences; Databases, Genetic; Erythropoiesis; Erythropoiesis - genetics; Gain of Function Mutation; Genome-wide association studies; Genome-Wide Association Study; Genomes; Hemoglobin; Hemoglobins - metabolism; Humans; Iceland; Iron; Iron Regulatory Protein 1 - genetics; Iron Regulatory Protein 1 - metabolism; Life Sciences; Loss of Function Mutation; Mutation; Oxygen; United Kingdom; United Kingdom; Iceland; United Kingdom--UK