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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Bibliografski detalji
Izdano u:Haematologica
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Ferrata Storti Foundation 2018
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Article
Online pristup: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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