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A novel nonsense variant in TPM4caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
- Source :
- Journal of Thrombosis and Haemostasis; May 2022, Vol. 20 Issue: 5 p1248-1255, 8p
- Publication Year :
- 2022
-
Abstract
- Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment of the pathogenicity of novel variants.
Details
- Language :
- English
- ISSN :
- 15387933 and 15387836
- Volume :
- 20
- Issue :
- 5
- Database :
- Supplemental Index
- Journal :
- Journal of Thrombosis and Haemostasis
- Publication Type :
- Periodical
- Accession number :
- ejs62064014
- Full Text :
- https://doi.org/10.1111/jth.15672