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Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review

SIMPLE SUMMARY: Erythrocytosis can be caused by a wide variety of diseases. Some forms of erythrocytosis have an obvious cause, such as a kidney injury, or it may have an oncological cause, but in some patients, the origin of the disease is not entirely clear, and since the symptoms of an isolated e...

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Detalles Bibliográficos
Autores principales: Lo Riso, Laura, Vargas-Parra, Gardenia, Navarro, Gemma, Arenillas, Leonor, Fernández-Ibarrondo, Lierni, Robredo, Beatriz, Ballester, Carmen, López, Bernardo, Perez-Montaña, Albert, Sampol, Antonia, Florensa, Lourdes, Besses, Carles, Duran, María Antonia, Bellosillo, Beatriz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601602/
https://www.ncbi.nlm.nih.gov/pubmed/36292571
http://dx.doi.org/10.3390/genes13101686