Literature DB >> 27982410

Two novel missense mutations in EPOR gene causes erythrocytosis in two unrelated patients.

Edoardo Peroni1, Irene Bertozzi1, Filippo Gherlinzoni2, Piero M Stefani2, AnnaMaria Lombardi1, Giacomo Biagetti1, Fabrizio Fabris1, Maria L Randi1.   

Abstract

Entities:  

Keywords:  EPOR mutations; congenital erythrocytosis; erythropoietin

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Year:  2016        PMID： 27982410     DOI： 10.1111/bjh.14486

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  2 in total

1.  A case of primary familial congenital polycythemia with a novel EPOR mutation: possible spontaneous remission/alleviation by menstrual bleeding.

Authors:  Naohisa Toriumi; Makoto Kaneda; Naoki Hatakeyama; Hiromi Manabe; Kazuki Okajima; Yukari Sakurai; Masayo Yamamoto; Takeo Sarashina; Katsuya Ikuta; Hiroshi Azuma
Journal:  Int J Hematol       Date:  2018-04-05       Impact factor: 2.490

Review 2.  Erythrocytosis: genes and pathways involved in disease development.

Authors:  Jernej Gašperšič; Aleša Kristan; Tanja Kunej; Irena Preložnik Zupan; Nataša Debeljak
Journal:  Blood Transfus       Date:  2020-12-16       Impact factor: 3.443
  2 in total

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