Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant

Germline defects in the transcription factor GATA1 are known to cause dyserythropoiesis with(out) anemia and variable abnormalities in platelet count and function. However, damaging variants closely located to the C-terminal zinc finger domain of GATA1 are nearly unknown. In this study, a 36-year-ol...

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Detalles Bibliográficos
Autores principales: Jurk, Kerstin, Adenaeuer, Anke, Sollfrank, Stefanie, Groß, Kathrin, Häuser, Friederike, Czwalinna, Andreas, Erkel, Josef, Fritsch, Nele, Marandiuc, Dana, Schaller, Martin, Lackner, Karl J., Rossmann, Heidi, Bergmann, Frauke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9564339/
https://www.ncbi.nlm.nih.gov/pubmed/36231035
http://dx.doi.org/10.3390/cells11193071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9564339/
https://www.ncbi.nlm.nih.gov/pubmed/36231035
http://dx.doi.org/10.3390/cells11193071

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