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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主要な著者:	Catarina Dantas Rodrigues, Rita Pombal, Janet Pereira, Luís Relvas, Elizabete Cunha, José Carlos Almeida, Tabita Maia, Helena Silva, Celeste Bento
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2022-08-01
シリーズ:	eJHaem
主題:	congenital erythrocytosis erythrocytosis polycythaemia VHL von Hippel–Lindau
オンライン･アクセス:	https://doi.org/10.1002/jha2.490
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