Schelker, Roland Christian and Herr, Wolfgang and Grassinger, Jochen (2019) A new exon 12 mutation in the EPAS1 gene possibly associated with erythrocytosis. EUROPEAN JOURNAL OF HAEMATOLOGY, 103 (1). pp. 64-66. ISSN 0902-4441, 1600-0609
Full text not available from this repository. (Request a copy)Abstract
In secondary erythrocytosis, the elevated red cell count is powered by factors outside the erythroid compartment, for instance by raised erythropoietin (EPO) synthesis based on congenital defects of the oxygen-sensing pathway. The principal transcriptional regulator of EPO synthesis is endothelial PAS domain-containing protein 1 (EPAS 1). We present here the first report of a patient with erythrocytosis involving a mutation of amino acid 525 in EPAS1. The p.Asp525His mutation affects a residue that is farthermost from primary functional site Pro-531 of any of the erythrocytosis-related mutations that have been identified up to now.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ; Asp525His; EPAS1; erythrocytosis; erythropoietin synthesis; oxygen-sensing pathway |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin III (Hämatologie und Internistische Onkologie) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 06 Apr 2020 06:58 |
| Last Modified: | 06 Apr 2020 06:58 |
| URI: | https://pred.uni-regensburg.de/id/eprint/26783 |
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