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

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, pheochromocytoma and somatostatinoma. In the present study, we describe a unique European collection of 41 patients and 28...

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Detalles Bibliográficos
Autores principales: Karaghiannis, Valéna, Maric, Darko, Garrec, Céline, Maaziz, Nada, Buffet, Alexandre, Schmitt, Loïc, Antunes, Vincent, Airaud, Fabrice, Aral, Bernard, Le Roy, Amandine, Corbineau, Sébastien, Mansour-Hendili, Lamisse, Lesieur, Valentine, Rimbert, Antoine, Laporte, Fabien, Delamare, Marine, Rab, Minke, Bézieau, Stéphane, Cassinat, Bruno, Galacteros, Frédéric, Gimenez-Roqueplo, Anne-Paule, Burnichon, Nelly, Cario, Holger, van Wijk, Richard, Bento, Celeste, Girodon, François, Hoogewijs, David, 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/PMC10230427/
https://www.ncbi.nlm.nih.gov/pubmed/36700397
http://dx.doi.org/10.3324/haematol.2022.281698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10230427/
https://www.ncbi.nlm.nih.gov/pubmed/36700397
http://dx.doi.org/10.3324/haematol.2022.281698

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