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The evolution of cellular deficiency in GATA2 mutation

Constitutive heterozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytopenias, infection, myelodysplasia (MDS), and acute myeloid leukemia. In this study, we describe a cross-sectional analysis of 24 patients and 6 relatives with 14 different frameshift or substitution mut...

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Autori principali: Dickinson, Rachel E., Milne, Paul, Jardine, Laura, Zandi, Sasan, Swierczek, Sabina I., McGovern, Naomi, Cookson, Sharon, Ferozepurwalla, Zaveyna, Langridge, Alexander, Pagan, Sarah, Gennery, Andrew, Heiskanen-Kosma, Tarja, Hämäläinen, Sari, Seppänen, Mikko, Helbert, Matthew, Tholouli, Eleni, Gambineri, Eleonora, Reykdal, Sigrún, Gottfreðsson, Magnús, Thaventhiran, James E., Morris, Emma, Hirschfield, Gideon, Richter, Alex G., Jolles, Stephen, Bacon, Chris M., Hambleton, Sophie, Haniffa, Muzlifah, Bryceson, Yenan, Allen, Carl, Prchal, Josef T., Dick, John E., Bigley, Venetia, Collin, Matthew
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3916878/
https://ncbi.nlm.nih.gov/pubmed/24345756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-07-517151
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