A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

Thirty-six unrelated cases with erythrocytosis of unknown origin were investigated. Exons 5–8 of the erythropoietin receptor gene (EPOR), the von Hippel-Lindau gene, and the prolyl hydroxylase domain protein 2 gene (PHD2) were screened by direct DNA sequencing. The Janus kinase 2 mutation, JAK2 (Val...

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Principais autores:	Maha Al-Sheikh, Elodie Mazurier, Betty Gardie, Nicole Casadevall, Frédéric Galactéros, Michel Goossens, Henri Wajcman, Claude Préhu, Valérie Ugo
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Ferrata Storti Foundation 2008-07-01
Colecção:	Haematologica
Acesso em linha:	https://haematologica.org/article/view/4916
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