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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 journalLetterAcademicpeer-review

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

Keywords

  • Adolescent
  • Amino Acid Sequence
  • Consanguinity
  • Female
  • Humans
  • Hypoxia-Inducible Factor-Proline Dioxygenases/chemistry
  • Loss of Function Mutation
  • Polycythemia/genetics
  • Zinc Fingers

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