Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis
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Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis
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
(2018) Blood, volume 132, issue 13, pp. 1455 - 1458
(Letter)
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Keywords: Adolescent, Amino Acid Sequence, Consanguinity, Female, Humans, Hypoxia-Inducible Factor-Proline Dioxygenases/chemistry, Loss of Function Mutation, Polycythemia/genetics, Zinc Fingers, Case Reports, Letter, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't