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Journal Articles

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J. L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Helene Dreau, Melissa Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean-Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus-Michael Debatin, Richard Redon, Stéphane Bezieau, Brigitte Bressac-de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard Van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot-Bonnemains, Stéphane Richard, Anne-Paule Gimenez-Roqueplo, Holger Cario, Betty Gardie
Journal: Blood
Blood (2018) 132 (5): 469–483.
https://doi.org/10.1182/blood-2018-03-838235
Published: 2018
Includes: Supplemental data
Journal Articles

A Comprehensive Study of the VHL -R200W Chuvash Polycythemia Mutation Reveals a Gradual Dysregulation of the Hypoxia Pathway in Oncogenesis

Betty Gardie, PhD, Sophie Couvé, PhD, Charline Ladroue, PhD, Elodie Laine, PhD, Karène Mahtouk, PhD, Justine Guégan, M.Sc., Sophie Gad, PhD, Hélène Le Jeune, B.Sc., Bernard Lecomte, MD, Jean-Christophe Pagès, MD, PhD, Patrick Benusiglio, MD PhD, Brigitte Bressac-de Paillerets, Pharm.D., PhD, Jean Feunteun, PhD, Philippe Dessen, PhD, Sylvie Hermouet, MD, PhD, Luba Tchertanov, PhD, David R. Mole, PhD, William G. Kaelin, MD, Peter J Ratcliffe, PhD, Stephane Richard, MD, PhD
Journal: Blood
Blood (2014) 124 (21): 4020.
https://doi.org/10.1182/blood.V124.21.4020.4020
Published: 2014