An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia-Reference-Cited by-同舟云学术

An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia

Published:2022-07-25 Issue:14 Volume:6 Page:4330-4334
ISSN:2473-9529
Container-title:Blood Advances
language:en
Short-container-title:

Author:

Hetzer Benjamin¹,Meryk Andreas¹^ORCID,Kropshofer Gabriele¹,Bargehr Caroline¹,Jimenez-Heredia Raul²³⁴,Boztug Kaan²³⁴⁵,Mühlegger Beatrix E.⁶^ORCID,Dworzak Michael⁴⁵,Gruber Thomas⁷,Crazzolara Roman¹

Affiliation:

1. 1Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria;

2. 2St Anna Children’s Cancer Research Institute (CCRI), Vienna, Austria;

3. 3Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria;

4. 4Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria;

5. 5St Anna Children’s Hospital, Vienna, Austria; and

6. 6Division of Human Genetics, and

7. 7Institute of Translational Cell Genetics, Medical University of Innsbruck, Innsbruck, Austria

Publisher

American Society of Hematology

Subject

Hematology

Link

https://ashpublications.org/bloodadvances/article-pdf/6/14/4330/1909621/advancesadv2021006347.pdf

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3. Human phenotypes associated with GATA-1 mutations;Ciovacco;Gene.,2008

4. Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1;Del Vecchio;Acta Haematol.,2005

5. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis;Hollanda;Nat Genet.,2006

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