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Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study

INTRODUCTION: Inborn errors of immunity (IEI) are an expanding group of rare diseases whose field has been boosted by next-generation sequencing (NGS), revealing several new entities, accelerating routine diagnoses, expanding the number of atypical presentations and generating uncertainties regardin...

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Detalles Bibliográficos
Autores principales: del Pino-Molina, L., Bravo Gallego, L. Y., Soto Serrano, Y., Reche Yebra, K., Marty Lobo, J., González Martínez, B., Bravo García-Morato, M., Rodríguez Pena, R., van der Burg, M., López Granados, E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10183671/
https://www.ncbi.nlm.nih.gov/pubmed/37197664
http://dx.doi.org/10.3389/fimmu.2023.1095123