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...

Popoln opis

Bibliografske podrobnosti

Principais autores:	João Barradas, Catarina Dantas Rodrigues, Gisela Ferreira, Paula Rocha, Conceição Constanço, Maria Reis Andrade, Celeste Bento, Helena Matos Silva
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2018-06-01
Serija:	Clinical Case Reports
Teme:	Congenital erythrocytosis hypoxia phd2 thrombosis
Online dostop:	https://doi.org/10.1002/ccr3.1499
Oznake:	Označite Brez oznak, prvi označite!