Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis

Abstract excerpt

Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study involving a collection of 2,160 patients with erythrocytosis sequenced in ten different laboratories. We focused our study on the EGLN1 gene and identified 39 germline missense variants including one gene deletion in 47 probands. EGLN1 encodes the PHD2...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cancer, Hypoxia, and Metabolism
• Share to Erythrocyte Function and Pathophysiology
• Share to High Altitude and Hypoxia