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New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis
Primary familial and congenital polycythemia is characterized by erythropoietin hypersensitivity of erythroid progenitors due to germline nonsense or frameshift mutations in the erythropoietin receptor gene. All mutations so far described lead to the truncation of the C-terminal receptor sequence th...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Ferrata Storti Foundation
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865417/ https://www.ncbi.nlm.nih.gov/pubmed/29269524 http://dx.doi.org/10.3324/haematol.2017.176370 |