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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
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