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A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure

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 hematol...

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Detalles Bibliográficos
Autores principales:	Tummala, Hemanth, Walne, Amanda J., Bewicke-Copley, Findlay, Ellison, Alicia, Pontikos, Nikolas, Bridger, Maria G., Rio-Machin, Ana, Sidhu, Jasmin K., Wang, Jun, Hasle, Henrik, Fitzgibbon, Jude, Vulliamy, Tom, Dokal, Inderjeet
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	National Academy of Sciences 2020
Materias:	Biological Sciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382244/ https://www.ncbi.nlm.nih.gov/pubmed/32636268 http://dx.doi.org/10.1073/pnas.2002857117

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