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

Research output: Contribution to journal › Letter › 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

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

Access to Document

10.1182/blood-2018-06-854711

Cite this

@article{f641cbe86b28421b84be95b0df4c5469,

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

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

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 = "Elsevier",

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 - Adolescent

KW - Amino Acid Sequence

KW - Consanguinity

KW - Female

KW - Humans

KW - Hypoxia-Inducible Factor-Proline Dioxygenases/chemistry

KW - Loss of Function Mutation

KW - Polycythemia/genetics

KW - Zinc Fingers

U2 - 10.1182/blood-2018-06-854711

DO - 10.1182/blood-2018-06-854711

M3 - Letter

C2 - 30111608

SN - 0006-4971

VL - 132

SP - 1455

EP - 1458

JO - Blood

JF - Blood

IS - 13

ER -