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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Vydáno v:Haematologica
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Ferrata Storti Foundation 2018
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Article
On-line přístup: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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