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Platelets Volume 30, 2019 - Issue 7
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Case Report

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

Lore De KockDepartment of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, BelgiumView further author information
,
Chantal ThysDepartment of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, BelgiumView further author information
,
Kate DownesDepartment of Hematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK;NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UKView further author information
,
Daniel DuarteDepartment of Hematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK;NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UKView further author information
,
Karyn MegyDepartment of Hematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK;NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UKView further author information
,
Chris Van GeetDepartment of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, BelgiumView further author information
&
Kathleen FresonDepartment of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, BelgiumCorrespondence[email protected]
View further author information
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Pages 931-934 | Received 25 Feb 2019, Accepted 30 May 2019, Published online: 17 Jun 2019

References

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  • Ayrapetov MK, Wang YH, Lin X, Gu X, Parang K, Sun G. Conformational basis for SH2-Tyr(P)527 binding in Src inactivation. J Biol Chem 2006;281:23776–23784. doi:10.1074/jbc.M604219200.
  • Freson K, Turro E. High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders. J Thromb Haemost 2017 Jul.;15(7):1262–1272. doi:10.1111/jth.13681.
  • Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH. Inherited platelet disorders: toward DNA-based diagnosis. Blood 2016;127:2814. doi:10.1182/blood-2016-03-378588.

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