An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia
Blood Adv
.
2022 Jul 26;6(14):4330-4334.
doi: 10.1182/bloodadvances.2021006347.
Authors
Benjamin Hetzer
1
,
Andreas Meryk
1
,
Gabriele Kropshofer
1
,
Caroline Bargehr
1
,
Raul Jimenez-Heredia
2
3
4
,
Kaan Boztug
2
3
4
5
,
Beatrix E Mühlegger
6
,
Michael Dworzak
4
5
,
Thomas Gruber
7
,
Roman Crazzolara
1
Affiliations
1
Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
2
St Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
4
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
5
St Anna Children's Hospital, Vienna, Austria; and.
6
Division of Human Genetics, and.
7
Institute of Translational Cell Genetics, Medical University of Innsbruck, Innsbruck, Austria.
PMID:
35580337
PMCID:
PMC9327554
DOI:
10.1182/bloodadvances.2021006347
No abstract available
Publication types
Research Support, Non-U.S. Gov't
MeSH terms
Anemia*
GATA1 Transcription Factor / genetics
Humans
Mutation, Missense*
Phosphorylation
Substances
GATA1 Transcription Factor
GATA1 protein, human