Literature DB >> 31347091

Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation.

Chitsanupong Ratarat1, Chupong Ittiwut2,3, Rungrote Natesirinilkul1, Lalita Sathitsamitpong1, Kanda Fanhchaksai1, Pimlak Charoenkwan4, Kanya Suphapeetiporn2,3, Vorasuk Shotelersuk2,3.   

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Year:  2019        PMID： 31347091     DOI： 10.1007/s12185-019-02713-y

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


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  3 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

2.  Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.

Authors:  R Kralovics; L Sokol; J T Prchal
Journal:  J Clin Invest       Date:  1998-07-01       Impact factor: 14.808

Review 3.  Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.

Authors:  Danijela Vočanec; Tinkara Prijatelj; Nataša Debeljak; Tanja Kunej
Journal:  Int J Lab Hematol       Date:  2018-12-03       Impact factor: 2.877
  3 in total

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