Article
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood - 2 Aug 2018
Lenglet Marion, Robriquet Florence, Schwarz Klaus, Camps Carme, Couturier Anne, Hoogewijs David, Buffet Alexandre, Knight Samantha J L, Gad Sophie, Couvé Sophie, Chesnel Franck, Pacault Mathilde, Lindenbaum Pierre, Job Sylvie, Dumont Solenne, Besnard Thomas, Cornec Marine, Dreau Helene, Pentony Melissa, Kvikstad Erika, Deveaux Sophie, Burnichon Nelly, Ferlicot Sophie, Vilaine Mathias, Mazzella Jean-Michaël, Airaud Fabrice, Garrec Céline, Heidet Laurence, Irtan Sabine, Mantadakis Elpis, Bouchireb Karim, Debatin Klaus-Michael, Redon Richard, Bezieau Stéphane, Bressac-de Paillerets Brigitte, Teh Bin Tean, Girodon François, Randi Maria-Luigia, Putti Maria Caterina, Bours Vincent, Van Wijk Richard, Göthert Joachim R, Kattamis Antonis, Janin Nicolas, Bento Celeste, Taylor Jenny C, Arlot-Bonnemains Yannick, Richard Stéphane, Gimenez-Roqueplo Anne-Paule, Cario Holger, Gardie Betty
Abstract excerpt
Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p.Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. Since this discovery, additional VHL mutations have been identified in patients with congenital erythrocytosis, in a homozygous or compound-heterozygous state. VHL is a major tumor suppressor gene, mutations in which were first described in patients...
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