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...

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Pubblicato in:Nat Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4631613/
https://ncbi.nlm.nih.gov/pubmed/25807284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3253
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