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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Published in:J Clin Invest
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2017
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5330761/
https://ncbi.nlm.nih.gov/pubmed/28134622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI86154
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