Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
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Author / Creator
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 and NIHR BioResource
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publication information
Publisher
United States: American Society for Clinical Investigation
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More information
Scope and Contents
Contents
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 cytoskeletal regulator tropomyosin 4 (TPM4) exert an eff...
Alternative Titles
Full title
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
Authors, Artists and Contributors
Author / Creator
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
NIHR BioResource
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5330761
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5330761
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI86154
