Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report

BACKGROUND: X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK). CASE DESCRIPTION: We describe a 36‐year‐old male who presented as an infant with hypogammaglobulinemia and sinopulmonary infectio...

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Detalles Bibliográficos
Autores principales: Srinivasan, Cindy, Shameli, Afshin, Ritchie, Bruce, Adatia, Adil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10587732/
https://www.ncbi.nlm.nih.gov/pubmed/37904676
http://dx.doi.org/10.1002/iid3.1049

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10587732/
https://www.ncbi.nlm.nih.gov/pubmed/37904676
http://dx.doi.org/10.1002/iid3.1049

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