Associated Papers
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf
Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.
Zhang S et al.
Hematology (amsterdam, Netherlands), 2024
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.
Dib F et al.
British Journal of Haematology, 2022
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Skalníková M et al.
International Journal of Molecular Sciences, 2022
The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.
Leinøe E et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
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