Characterization of genetic variants in the EGLN1/PHD2 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 ge...

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Detalles Bibliográficos
Autores principales: Delamare, Marine, Le Roy, Amandine, Pacault, Mathilde, Schmitt, Loïc, Garrec, Céline, Maaziz, Nada, Myllykoski, Matti, Rimbert, Antoine, Karaghiannis, Valéna, Aral, Bernard, Catherwood, Mark, Airaud, Fabrice, Mansour-Hendili, Lamisse, Hoogewijs, David, Peroni, Edoardo, Idriss, Salam, Lesieur, Valentine, Caillaud, Amandine, Si-Tayeb, Karim, Chariau, Caroline, Gaignerie, Anne, Rab, Minke, Haferlach, Torsten, Meggendorfer, Manja, Bézieau, Stéphane, Benetti, Andrea, Casadevall, Nicole, Hirsch, Pierre, Rose, Christian, Wemeau, Mathieu, Galacteros, Frédéric, Cassinat, Bruno, Bellosillo, Beatriz, Bento, Celeste, van Wijk, Richard, Petrides, Petro E., Randi, Maria Luigia, McMullin, Mary Frances, Koivunen, Peppi, consortium, ECYT-3, Girodon, François, Gardie, Betty
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2023
Materias:
Article - Red Cell Biology & its Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620589/
https://www.ncbi.nlm.nih.gov/pubmed/37317877
http://dx.doi.org/10.3324/haematol.2023.282913

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620589/
https://www.ncbi.nlm.nih.gov/pubmed/37317877
http://dx.doi.org/10.3324/haematol.2023.282913

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