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Novel variants in GALEcause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
- Source :
- Blood; January 2023, Vol. 141 Issue: 4 p406-421, 16p
- Publication Year :
- 2023
-
Abstract
- •GALEis expressed during late-stage megakaryopoiesis, regulating the glycosylation and surface exposure of GPIbα and β1 integrin.•Novel GALEvariants cause syndromic macrothrombocytopenia associated with impaired platelet formation and function.
Details
- Language :
- English
- ISSN :
- 00064971 and 15280020
- Volume :
- 141
- Issue :
- 4
- Database :
- Supplemental Index
- Journal :
- Blood
- Publication Type :
- Periodical
- Accession number :
- ejs61423831
- Full Text :
- https://doi.org/10.1182/blood.2022016995