Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC

Serena Barozzi; Christian A Di Buduo; Caterina Marconi; Valeria Bozzi; Marco Seri; Francesca Romano; Alessandra Balduini; Alessandro Pecci

doi:10.3324/haematol.2020.268516

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC

Haematologica. 2021 Mar 1;106(3):918-922. doi: 10.3324/haematol.2020.268516.

Authors

Serena Barozzi¹, Christian A Di Buduo^{2

3}, Caterina Marconi⁴, Valeria Bozzi¹, Marco Seri⁴, Francesca Romano⁵, Alessandra Balduini^{2

3}, Alessandro Pecci¹

Affiliations

¹ Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia
² Department of Molecular Medicine, University of Pavia, Pavia
³ Laboratory of Biochemistry, Biotechnology and Advanced Diagnosis, IRCCS Policlinico San Matteo Foundation, Pavia
⁴ Department of Medical and Surgical Sciences, University of Bologna, Bologna
⁵ Postgraduate School of Pediatrics, University of Torino, Torino, Italy

No abstract available

MeSH terms

Anemia*
Gain of Function Mutation
Humans
Leukopenia*
Thrombocytopenia* / diagnosis
Thrombocytopenia* / genetics

Grants and funding

Funding: This study has been supported by the Telethon Foundation (grant no. GGP17106, to AP); the IRCCS Policlinico San Matteo Foundation (to AP); the European Union (H2020-Project ID 767309, to AB); the Italian Ministry of Health (GR-2018-12367235, to CADB).