αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

BACKGROUND: Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) or ITGA2B/ITGB3-related thromboc...

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Detalles Bibliográficos
Autores principales: Morais, Sara, Oliveira, Jorge, Lau, Catarina, Pereira, Mónica, Gonçalves, Marta, Monteiro, Catarina, Gonçalves, Ana Rita, Matos, Rui, Sampaio, Marco, Cruz, Eugénia, Freitas, Inês, Santos, Rosário, Lima, Margarida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7717987/
https://www.ncbi.nlm.nih.gov/pubmed/33276370
http://dx.doi.org/10.1371/journal.pone.0235136

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