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...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wiley
2018-06-01
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| Seri Bilgileri: | Clinical Case Reports |
| Konular: | |
| Online Erişim: | https://doi.org/10.1002/ccr3.1499 |
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