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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Detalhes bibliográficos

Principais autores:	Florence Pasquier, Caroline Marty, Thomas Balligand, Frédérique Verdier, Sarah Grosjean, Vitalina Gryshkova, Hana Raslova, Stefan N. Constantinescu, Nicole Casadevall, William Vainchenker, Christine Bellanné-Chantelot, Isabelle Plo
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Ferrata Storti Foundation 2018-04-01
coleção:	Haematologica
Acesso em linha:	https://haematologica.org/article/view/8411
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