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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: American Society of Hematology 2014
الموضوعات:
Hematopoiesis and Stem Cells
الوصول للمادة أونلاين: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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