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Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

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 tra...

Ausführliche Beschreibung

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Bibliografische Detailangaben
Hauptverfasser: Carme Camps, Nayia Petousi, Celeste Bento, Holger Cario, Richard R. Copley, Mary Frances McMullin, Richard van Wijk, Peter J. Ratcliffe, Peter A. Robbins, Jenny C. Taylor
Format: Artigo
Sprache:Inglês
Veröffentlicht: Ferrata Storti Foundation 2016-11-01
Schriftenreihe:Haematologica
Online-Zugang:https://haematologica.org/article/view/7874
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