@article{lenglet:hal-01833917,
TITLE = {Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease},
AUTHOR = {Lenglet, Marion and Robriquet, Florence and Schwarz, Klaus and Camps, Carme and Couturier, Anne and Hoogewijs, David and Buffet, Alexandre and Knight, Samantha Jl and Gad, Sophie and Couv{\'e},
Sophie and Chesnel, Franck and Pacault, Mathilde and Lindenbaum, Pierre and Job, Sylvie and Dumont, Solenne and Besnard, Thomas and Cornec, Marine and Dreau, Helene and Pentony, Melissa and Kvikstad, Erika and Deveaux, Sophie and Burnichon, Nelly and Ferlicot, Sophie and Vilaine, Mathias and Mazzella, Jean-Micha{\"e}l and Airaud, Fabrice and Garrec, C{\'e}line and Heidet, Laurence and Irtan, Sabine and Mantadakis, Elpis and Bouchireb, Karim and Debatin, Klaus-Michael and Redon, Richard and Bezieau, St{\'e}phane and Bressac-de Paillerets, Brigitte and Teh, Bin Tean and Girodon, Fran{\c c}ois and Randi, Maria-Luigia and Putti, Maria Caterina and Bours, Vincent and van Wijk, Richard and G{\"o}thert, Joachim R. and Kattamis, Antonis and Janin, Nicolas and Bento, Celeste and Taylor, Jenny C. and Arlot-Bonnemains, Yannick and Richard, St{\'e}phane and Gimenez-Roqueplo, Anne-Paule and Cario, Holger and Gardie, Betty},
URL = {https://hal.science/hal-01833917},
JOURNAL = {Blood},
PUBLISHER = {American Society of Hematology},
VOLUME = {132},
NUMBER = {5},
PAGES = {469-483},
YEAR = {2018},
MONTH = Aug, DOI = {10.1182/blood-2018-03-838235},
PDF = {https://hal.science/hal-01833917/file/Lenglet%20et%20al_2018_New%20lessons%20from%20an%20old%20gene.pdf},
HAL_ID = {hal-01833917},
HAL_VERSION = {v1},
}