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An R307H Substitution in GATA1 That Prevents Ser310 Phosphorylation Causes Severe Fetal Anemia

Overview
Journal Blood Adv
Specialty Hematology
Date 2022 May 17
PMID 35580337
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References
1.
Ciovacco W, Raskind W, Kacena M . Human phenotypes associated with GATA-1 mutations. Gene. 2008; 427(1-2):1-6. PMC: 2601579. DOI: 10.1016/j.gene.2008.09.018. View

2.
Miccio A, Blobel G . Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes. Mol Cell Biol. 2010; 30(14):3460-70. PMC: 2897567. DOI: 10.1128/MCB.00001-10. View

3.
Nichols K, Crispino J, Poncz M, White J, Orkin S, Maris J . Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000; 24(3):266-70. PMC: 10576470. DOI: 10.1038/73480. View

4.
Yoshida K, Toki T, Okuno Y, Kanezaki R, Shiraishi Y, Sato-Otsubo A . The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet. 2013; 45(11):1293-9. DOI: 10.1038/ng.2759. View

5.
Rooke H, Orkin S . Phosphorylation of Gata1 at serine residues 72, 142, and 310 is not essential for hematopoiesis in vivo. Blood. 2006; 107(9):3527-30. PMC: 1895769. DOI: 10.1182/blood-2005-10-4309. View