Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 var...

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Publicado en:Leukemia
Autores principales: Kozyra, Emilia J., Pastor, Victor B., Lefkopoulos, Stylianos, Sahoo, Sushree S., Busch, Hauke, Voss, Rebecca K., Erlacher, Miriam, Lebrecht, Dirk, Szvetnik, Enikoe A., Hirabayashi, Shinsuke, Pasaulienė, Ramunė, Pedace, Lucia, Tartaglia, Marco, Klemann, Christian, Metzger, Patrick, Boerries, Melanie, Catala, Albert, Hasle, Henrik, de Haas, Valerie, Kállay, Krisztián, Masetti, Riccardo, De Moerloose, Barbara, Dworzak, Michael, Schmugge, Markus, Smith, Owen, Starý, Jan, Mejstrikova, Ester, Ussowicz, Marek, Morris, Emma, Singh, Preeti, Collin, Matthew, Derecka, Marta, Göhring, Gudrun, Flotho, Christian, Strahm, Brigitte, Locatelli, Franco, Niemeyer, Charlotte M., Trompouki, Eirini, Wlodarski, Marcin W.
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7515837/
https://ncbi.nlm.nih.gov/pubmed/32555368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41375-020-0899-5
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