Article
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Haematologica - 1 Nov 2016
Camps Carme, Petousi Nayia, Bento Celeste, Cario Holger, Copley Richard R, McMullin Mary Frances, van Wijk Richard, Ratcliffe Peter J, Robbins Peter A, Taylor Jenny C
Abstract excerpt
Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated hemoglobin concentration and hematocrit. Several genetic variants have been identified as causes for erythrocytosis in genes belonging to different pathways including oxygen sensing, erythropoiesis and oxygen transport. However, despite clinical investigation and screening for these mutations, the cause of disease cannot be...
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