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Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model
Inherited thrombocytopenia results in low platelet counts and increased bleeding. Subsets of these patients have monoallelic germline mutations in ETV6 or RUNX1 and a heightened risk of developing hematologic malignancies. Utilizing CRISPR-Cas9, we compared the in vitro phenotype of hematopoietic pr...
Autores principales: | Borst, Sara, Nations, Catriana C., Klein, Joshua G., Pavani, Giulia, Maguire, Jean Ann, Camire, Rodney M., Drazer, Michael W., Godley, Lucy A., French, Deborah L., Poncz, Mortimer, Gadue, Paul |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8190596/ https://www.ncbi.nlm.nih.gov/pubmed/34019812 http://dx.doi.org/10.1016/j.stemcr.2021.04.013 |
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