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

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 in the cr...

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Detalles Bibliográficos
Autores principales: Rodrigues, Catarina Dantas, Pombal, Rita, Pereira, Janet, Relvas, Luís, Cunha, Elizabete, Almeida, José Carlos, Maia, Tabita, Silva, Helena, Bento, Celeste
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421959/
https://www.ncbi.nlm.nih.gov/pubmed/36051068
http://dx.doi.org/10.1002/jha2.490

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