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Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia.(1,2) We identified a family with autosomal dominant thrombocytopenia, high erythrocyte mean corpuscular volume (MCV) and two occurrences of B-cell precursor ac...
Autores principales: | Noetzli, Leila, Lo, Richard W., Lee-Sherick, Alisa B., Callaghan, Michael, Noris, Patrizia, Savoia, Anna, Rajpurkar, Madhvi, Jones, Kenneth, Gowan, Katherine, Balduini, Carlo, Pecci, Alessandro, Gnan, Chiara, De Rocco, Daniela, Doubek, Michael, Li, Ling, Lu, Lily, Leung, Richard, Landolt-Marticorena, Carolina, Hunger, Stephen, Heller, Paula, Gutierrez-Hartmann, Arthur, Xiayuan, Liang, Pluthero, Fred G., Rowley, Jesse W., Weyrich, Andrew S., Kahr, Walter H. A., Porter, Christopher C., Di Paola, Jorge |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631613/ https://www.ncbi.nlm.nih.gov/pubmed/25807284 http://dx.doi.org/10.1038/ng.3253 |
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