TY  - JOUR 
AU  - Bastida Bermejo, José María
AU  - Malvestiti, Stefano
AU  - Boeckelmann, Doris
AU  - Palma-Barqueros, Verónica
AU  - Wolter, Mira
AU  - Lozano, María L.
AU  - Glonnegger, Hannah
AU  - Benito Sánchez, Rocío
AU  - Zaninetti, Carlo
AU  - Sobbotta, Félix
AU  - Schilling, Freimut H.
AU  - Morgan, Neil V.
AU  - Freson, Kathleen
AU  - Rivera, José
AU  - Zieger, Bárbara
PY  - 2022
UR  - http://hdl.handle.net/10366/171711
AB  - [EN]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...
LA  - eng
PB  - MDPI
KW  - GATA1 Transcription Factor
KW  - Thrombocytopenia
KW  - Zinc Fingers
KW  - Genetic Diseases, X-Linked
KW  - Genetic Variation
KW  - Anemia, Dyserythropoietic, Congenital
KW  - Humans
KW  - Male
KW  - Integrins
KW  - Phenotype
KW  - Blood Platelets
KW  - Thrombocytopenia
KW  - Phenotype
KW  - Zinc Fingers
KW  - Blood Platelets
KW  - Humans
KW  - Genetic Variation
KW  - Anemia
KW  - Integrins
KW  - GATA1 Transcription Factor
TI  - 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
DO  - 10.3390/cells11203223
T2  - Cells
VL  - 11
ER  -