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

Blood. 2018 Sep 27;132(13):1455-1458. doi: 10.1182/blood-2018-06-854711. Epub 2018 Aug 15.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • EGLN1 protein, human
  • Hypoxia-Inducible Factor-Proline Dioxygenases