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Archive ouverte | Filser, Mathilde | CCSD

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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...

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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...

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