Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene

por Barradas, João, Rodrigues, Catarina Dantas, Ferreira, Gisela, Rocha, Paula, Constanço, Conceição, Andrade, Maria Reis, Bento, Celeste, Silva, Helena Matos
Publicado 2018

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

por Rodrigues, Catarina Dantas, Pombal, Rita, Pereira, Janet, Relvas, Luís, Cunha, Elizabete, Almeida, José Carlos, Maia, Tabita, Silva, Helena, Bento, Celeste
Publicado 2022