A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Hematology,General Medicine
Reference11 articles.
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1. Bernard–Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management;Seminars in Thrombosis and Hemostasis;2024-08-27
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3. Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha ( GP1BA ) and glycoprotein Ib platelet subunit beta ( GP1BB ) genes responsible for constitutional thrombocytopenia;British Journal of Haematology;2022-09-29
4. Inherited Platelet Disorders;Hematology/Oncology Clinics of North America;2021-12
5. Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints;Cytometry Part B: Clinical Cytometry;2020-06-09
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