Suggestions

Du même auteur

Low incidence of EPOR mutations in idiopathic erythrocytosis

Archive ouverte | Filser, Mathilde | CCSD

International audience. No abstract available

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

Archive ouverte | Delamare, Marine | CCSD

International audience. 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 2,1...

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis

Archive ouverte | Karaghiannis, Valéna | CCSD

International audience. Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocyto...

Chargement des enrichissements...