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

doi:10.1182/blood-2018-06-854711

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 journal › Comment/Letter to the editor › Academic › peer-review

Original language	English
Pages (from-to)	1455-1458
Number of pages	4
Journal	Blood
Volume	132
Issue number	13
DOIs	https://doi.org/10.1182/blood-2018-06-854711
Publication status	Published - 27 Sept 2018

Keywords

HYDROXYLASE DOMAIN PROTEIN-2
HYPOXIA-INDUCIBLE FACTORS
PHD2 MUTATION
PATHWAY
FAMILY

Access to Document

10.1182/blood-2018-06-854711

Cite this

@article{ae906ecc9d4e46379fe272a4d6af6029,

title = "Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis",

keywords = "HYDROXYLASE DOMAIN PROTEIN-2, HYPOXIA-INDUCIBLE FACTORS, PHD2 MUTATION, PATHWAY, FAMILY",

author = "Margje Sinnema and Daisheng Song and Wei Guan and Janssen, {Johanna W. H.} and {van Wijk}, Richard and Navalsky, {Bradleigh E.} and Kai Peng and Donker, {Albertine E.} and Stegmann, {Alexander P. A.} and Lee, {Frank S.}",

year = "2018",

month = sep,

day = "27",

doi = "10.1182/blood-2018-06-854711",

language = "English",

volume = "132",

pages = "1455--1458",

journal = "Blood",

issn = "0006-4971",

publisher = "The American Society of Hematology",

number = "13",

}

TY - JOUR

T1 - Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis

AU - Sinnema, Margje

AU - Song, Daisheng

AU - Guan, Wei

AU - Janssen, Johanna W. H.

AU - van Wijk, Richard

AU - Navalsky, Bradleigh E.

AU - Peng, Kai

AU - Donker, Albertine E.

AU - Stegmann, Alexander P. A.

AU - Lee, Frank S.

PY - 2018/9/27

Y1 - 2018/9/27

KW - HYDROXYLASE DOMAIN PROTEIN-2

KW - HYPOXIA-INDUCIBLE FACTORS

KW - PHD2 MUTATION

KW - PATHWAY

KW - FAMILY

U2 - 10.1182/blood-2018-06-854711

DO - 10.1182/blood-2018-06-854711

M3 - Comment/Letter to the editor

C2 - 30111608

SN - 0006-4971

VL - 132

SP - 1455

EP - 1458

JO - Blood

JF - Blood

IS - 13

ER -