Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

Platelets are anuclear cells that are essential for blood clotting. They are produced by large polyploid precursor cells called megakaryocytes. Previous genome-wide association studies in nearly 70,000 individuals indicated that single nucleotide variants (SNVs) in the gene encoding the actin cytosk...

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Detalles Bibliográficos
Autores principales: Pleines, Irina, Woods, Joanne, Chappaz, Stephane, Kew, Verity, Foad, Nicola, Ballester-Beltrán, José, Aurbach, Katja, Lincetto, Chiara, Lane, Rachael M., Schevzov, Galina, Alexander, Warren S., Hilton, Douglas J., Astle, William J., Downes, Kate, Nurden, Paquita, Westbury, Sarah K., Mumford, Andrew D., Obaji, Samya G., Collins, Peter W., Delerue, Fabien, Ittner, Lars M., Bryce, Nicole S., Holliday, Mira, Lucas, Christine A., Hardeman, Edna C., Ouwehand, Willem H., Gunning, Peter W., Turro, Ernest, Tijssen, Marloes R., Kile, Benjamin T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5330761/
https://www.ncbi.nlm.nih.gov/pubmed/28134622
http://dx.doi.org/10.1172/JCI86154

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