Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS7
Genotyping of Eight Human Platelet Antigen Systems in Serbian Blood Donors: Foundation for Platelet Apheresis Registry.
Jovanovic Srzentic S et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2021
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Guéguen P et al.
Transfusion, 2020
Population-Specific Associations of Deleterious Rare Variants in Coding Region of P2RY1-P2RY12 Purinergic Receptor Genes in Large-Vessel Ischemic Stroke Patients.
Janicki PK et al.
International Journal of Molecular Sciences, 2017
Recent advances in understanding the clinical relevance of antiplatelet alloantibodies.
Guz K et al.
Polish Archives of Internal Medicine, 2017
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.
Pillois X et al.
British Journal of Haematology, 2016
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
Nurden AT et al.
Human Mutation, 2015
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.
Buitrago L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing.
Xu X et al.
Vox Sanguinis, 2009
Molecular typing of human platelet antigens in immune thrombocytopenia patients in northern Brazil.
Carmo JCD et al.
Revista Brasileira De Hematologia E Hemoterapia, 0
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