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*

*Corresponding author for this work

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

10 Citations (Web of Science)
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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