Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis

Margje Sinnema, Daisheng Song, Wei Guan, Johanna W. H. Janssen, Richard van Wijk, Bradleigh E. Navalsky, Kai Peng, Albertine E. Donker, Alexander P. A. Stegmann, Frank S. Lee

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

Original languageEnglish
Pages (from-to)1455-1458
Number of pages4
JournalBlood
Volume132
Issue number13
DOIs
Publication statusPublished - 27 Sep 2018

Keywords

  • HYDROXYLASE DOMAIN PROTEIN-2
  • HYPOXIA-INDUCIBLE FACTORS
  • PHD2 MUTATION
  • PATHWAY
  • FAMILY

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