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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Catarina Dantas Rodrigues, Rita Pombal, Janet Pereira, Luís Relvas, Elizabete Cunha, José Carlos Almeida, Tabita Maia, Helena Silva, Celeste Bento
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Wiley 2022-08-01
Sarja:	eJHaem
Aiheet:	congenital erythrocytosis erythrocytosis polycythaemia VHL von Hippel–Lindau
Linkit:	https://doi.org/10.1002/jha2.490
Tagit:	Lisää tagi Ei tageja, Lisää ensimmäinen tagi!