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Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene
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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986049/ https://www.ncbi.nlm.nih.gov/pubmed/29881576 http://dx.doi.org/10.1002/ccr3.1499 |