Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis
Publication date
2018-09-27
Authors
Sinnema, Margje
Song, Daisheng
Guan, Wei
Janssen, Johanna W H
Van Wijk, Richard
Navalsky, Bradleigh E
Peng, Kai
Donker, Albertine E
Stegmann, Alexander P A
Lee, Frank S
Editors
Advisors
Supervisors
Document Type
Letter
Metadata
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taverne
Abstract
Keywords
Adolescent, Amino Acid Sequence, Consanguinity, Female, Humans, Hypoxia-Inducible Factor-Proline Dioxygenases/chemistry, Loss of Function Mutation, Polycythemia/genetics, Zinc Fingers, Taverne, Case Reports, Letter, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't
Citation
Sinnema, M, Song, D, Guan, W, Janssen, J W H, van Wijk, R, Navalsky, B E, Peng, K, Donker, A E, Stegmann, A P A & Lee, F S 2018, 'Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis', Blood, vol. 132, no. 13, pp. 1455-1458. https://doi.org/10.1182/blood-2018-06-854711