A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure [Genetics]
Inherited bone marrow failure (BMF) syndromes are a heterogeneous group of diseases characterized by defective hematopoiesis and often predisposing to myelodysplastic syndrome (MDS) and acute myelogenous leukemia. We have studied a large family consisting of several affected individuals with hematologic abnormalities, including one family member who died of acute leukemia....
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Hemanth Tummala, Amanda J. Walne, Findlay Bewicke-Copley, Alicia Ellison, Nikolas Pontikos, Maria G. Bridger, Ana Rio-Machin, Jasmin K. Sidhu, Jun Wang, Henrik Hasle, Jude Fitzgibbon, Tom Vulliamy, Inderjeet Dokal Tags: Biological Sciences Source Type: research
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