Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

Background Congenital secondary erythrocytoses are due to deregulation of hypoxia inducible factor resulting in overproduction of erythropoietin. The most common germline mutation identified in the hypoxia signaling pathway is the Arginine 200-Tryptophan mutant of the von Hippel-Lindau tumor suppres...

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Main Authors: Charline Ladroue, David Hoogewijs, Sophie Gad, Romain Carcenac, Federica Storti, Michel Barrois, Anne-Paule Gimenez-Roqueplo, Michel Leporrier, Nicole Casadevall, Olivier Hermine, Jean-Jacques Kiladjian, André Baruchel, Fadi Fakhoury, Brigitte Bressac-de Paillerets, Jean Feunteun, Nathalie Mazure, Jacques Pouysségur, Roland H. Wenger, Stéphane Richard, Betty Gardie
Format: Article
Language:English
Published: Ferrata Storti Foundation 2012-01-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/6195

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https://haematologica.org/article/view/6195

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