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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Detalles Bibliográficos
Autores principales: Bastida, José M., Malvestiti, Stefano, Boeckelmann, Doris, Palma-Barqueros, Verónica, Wolter, Mira, Lozano, María L., Glonnegger, Hannah, Benito, Rocío, Zaninetti, Carlo, Sobotta, Felix, Schilling, Freimut H., Morgan, Neil V., Freson, Kathleen, Rivera, José, Zieger, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600848/
https://www.ncbi.nlm.nih.gov/pubmed/36291092
http://dx.doi.org/10.3390/cells11203223

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