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Article

Cis-regulatory mechanisms governing stem and progenitor cell transitions

4 Sept 2015

Abstract excerpt

Cis-element encyclopedias provide information on phenotypic diversity and disease mechanisms. Although cis-element polymorphisms and mutations are instructive, deciphering function remains challenging. Mutation of an intronic GATA motif (+9.5) in GATA2, encoding a master regulator of hematopoiesis, underlies an immunodeficiency associated with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML)....

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PMID: 26601269
DOI: 10.1126/sciadv.1500503

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