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

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

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-het...

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Hauptverfasser: Lenglet, M, Robriquet, F, Schwarz, K, Camps, C, Couturier, A, Hoogewijs, D, Buffet, A, Knight, SJ, Gad, S, Couvé, S, Chesnel, F, Pacault, M, Lindenbaum, P, Job, S, Dumont, S, Besnard, T, Cornec, M, Dreau, H, Pentony, M, Kvikstad, E, Deveaux, S, Burnichon, N, Ferlicot, S, Vilaine, M, Mazzella, J-M, Airaud, F, Garrec, C, Heidet, L, Irtan, S, Mantadakis, E, Bouchireb, K, Debatin, K-M, Redon, R, Bezieau, S, Paillerets, B, Teh, BT, Girodon, F, Randi, M-L, Putti, MC, Bours, V, Van Wijk, R, Göthert, JR, Kattamis, A, Janin, N, Bento, C, Taylor, JC, Arlot-Bonnemains, Y, Richard, S, Gimenez-Roqueplo, A-P, Cario, H, Gardie, B
Format: Journal article
Sprache:English
Veröffentlicht: American Society of Hematology 2018

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