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

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

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 g...

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Asıl Yazarlar: Marine Delamare, Amandine Le Roy, Mathilde Pacault, Loïc Schmitt, Céline Garrec, Nada Maaziz, Matti Myllykoski, Antoine Rimbert, Valéna Karaghiannis, Bernard Aral, Mark Catherwood, Fabrice Airaud, Lamisse Mansour-Hendili, David Hoogewijs, Edoardo Peroni, Salam Idriss, Valentine Lesieur, Amandine Caillaud, Karim Si-Tayeb, Caroline Chariau, Anne Gaignerie, Minke Rab, Torsten Haferlach, Manja Meggendorfer, Stéphane Bézieau, Andrea Benetti, Nicole Casadevall, Pierre Hirsch, Christian Rose, Mathieu Wemeau, Frédéric Galacteros, Bruno Cassinat, Beatriz Bellosillo, Celeste Bento, Richard van Wijk, Petro E. Petrides, Maria Luigia Randi, Mary Frances McMullin, Peppi Koivunen, François Girodon, Betty Gardie, ECYT consortium
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Ferrata Storti Foundation 2023-06-01
Seri Bilgileri:Haematologica
Online Erişim:https://haematologica.org/article/view/11113

Internet

https://haematologica.org/article/view/11113

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