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

Key Clinical Message Congenital erythrocytosis is a hereditary disorder due to an increase in red cell mass that can be caused by mutations in proteins involved in HIF‐α pathway, as PHD2. Hereby, we describe a new familial mutation in PHD2 gene. Considering an increased thrombotic potential, patient...

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Principais autores:	João Barradas, Catarina Dantas Rodrigues, Gisela Ferreira, Paula Rocha, Conceição Constanço, Maria Reis Andrade, Celeste Bento, Helena Matos Silva
Format:	Artigo
Sprog:	Inglês
Udgivet:	Wiley 2018-06-01
Serier:	Clinical Case Reports
Fag:	Congenital erythrocytosis hypoxia phd2 thrombosis
Online adgang:	https://doi.org/10.1002/ccr3.1499
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