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

Internet

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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