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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Publicado no:Haematologica
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5865417/
https://ncbi.nlm.nih.gov/pubmed/29269524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2017.176370
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