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

This study demonstrates that cryptic exon retention and exon skipping are new VHL alterations and reveals a novel complex splicing regulation of the VHL gene. These findings open new avenues for diagnosis and research regarding the VHL-related hypoxia-signaling pathway.

Source: Blood - August 2, 2018 Category: Hematology Authors: Lenglet, M., Robriquet, F., Schwarz, K., Camps, C., Couturier, A., Hoogewijs, D., Buffet, A., Knight, S. J. L., Gad, S., Couve, S., Chesnel, F., Pacault, M., Lindenbaum, P., Job, S., Dumont, S., Besnard, T., Cornec, M., Dreau, H., Pentony, M., Kvikstad, E Tags: Pediatric Hematology, Plenary Papers, Red Cells, Iron, and Erythropoiesis Source Type: research