A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

The GATA1 transcription factor is essential for normal erythropoiesis and megakaryocytic differentiation. Germline GATA1 pathogenic variants in the N-terminal zinc finger (N-ZF) are typically associated with X-linked thrombocytopenia, platelet dysfunction, and dyserythropoietic anemia. A few variant...

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Bibliographic Details
Main Authors: José M. Bastida, Stefano Malvestiti, Doris Boeckelmann, Verónica Palma-Barqueros, Mira Wolter, María L. Lozano, Hannah Glonnegger, Rocío Benito, Carlo Zaninetti, Felix Sobotta, Freimut H. Schilling, Neil V. Morgan, Kathleen Freson, José Rivera, Barbara Zieger
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Cells
Subjects:
platelet pathophysiology
inherited platelet defects
bleeding
GATA1
Online Access:https://www.mdpi.com/2073-4409/11/20/3223

Internet

https://www.mdpi.com/2073-4409/11/20/3223

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