Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases

Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases

Abstract Congenital erythrocytosis (CE) represents a rare and heterogeneous group of hereditary disorders. The molecular basis of VHL gene mutations related to CE. Recently, Lenglet et al. reported a discovery of a novel cryptic exon in the VHL gene. Mutations in the first intronic region resulting...

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Bibliographic Details
Main Authors: Catarina Dantas Rodrigues, Rita Pombal, Janet Pereira, Luís Relvas, Elizabete Cunha, José Carlos Almeida, Tabita Maia, Helena Silva, Celeste Bento
Format: Article
Language:English
Published: Wiley 2022-08-01
Series:eJHaem
Subjects:
congenital erythrocytosis
erythrocytosis
polycythaemia
VHL
von Hippel–Lindau
Online Access:https://doi.org/10.1002/jha2.490

Internet

https://doi.org/10.1002/jha2.490

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