Congenital erythrocytosis - discover of a new mutation in theEGLN1gene
| Autor: | Maria Reis Andrade, Catarina Dantas Rodrigues, Celeste Bento, Paula Rocha, Gisela Ferreira, Conceição Constanço, Helena Matos Silva, João Barradas |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Congenital erythrocytosis Case Report phd2 Case Reports 03 medical and health sciences 0302 clinical medicine medicine Gene thrombosis EGLN1 Gene Red Cell hypoxia business.industry General Medicine Hypoxia (medical) medicine.disease Thrombosis 030104 developmental biology New mutation Mutation (genetic algorithm) Cancer research medicine.symptom business 030215 immunology |
| Zdroj: | Clinical Case Reports |
| ISSN: | 2050-0904 |
| DOI: | 10.1002/ccr3.1499 |
| Popis: | 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, patients began antiplatelet aggregation therapy and phlebotomies. |
| Databáze: | OpenAIRE |
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