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...

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Detalles Bibliográficos
Autores principales: Pasquier, Florence, Marty, Caroline, Balligand, Thomas, Verdier, Frédérique, Grosjean, Sarah, Gryshkova, Vitalina, Raslova, Hana, Constantinescu, Stefan N., Casadevall, Nicole, Vainchenker, William, Bellanné-Chantelot, Christine, Plo, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2018
Materias:
Article
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

Internet

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

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