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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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
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

Internet

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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