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Human leukemia mutations corrupt but do not abrogate GATA-2 function

9 Oct 2018

Abstract excerpt

Significance GATA-2 functions in stem and progenitor cells to control blood cell development, and its mutations cause blood diseases (immunodeficiency, myelodysplasia, and myeloid leukemia). How GATA-2 mutations cause these diseases is unclear. We innovated a genetic complementation assay to analyze functional ramifications of GATA-2 disease mutations. The activities of GATA-2 and mutants were quantified in blood...

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PMID: 30301799
DOI: 10.1073/pnas.1813015115

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