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Article

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

29 Jan 2017

Abstract excerpt

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 effect on the count and volume of platelets. Platelet number and...

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PMID: 28134622
DOI: 10.1172/jci86154

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