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A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

BACKGROUND: X-linked agammaglobulinemia (XLA) is a rare inherited disease characterized by recurrent bacterial infections, a paucity or absence of peripheral lymphoid tissue, an absence of circulating B cells, and marked depression of serum IgG, IgA, and IgM. Germline mutation of the BTK gene has be...

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Detalles Bibliográficos
Autores principales: Zheng, Bixia, Zhang, Yayuan, Jin, Yu, Yu, Haiguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286934/
https://www.ncbi.nlm.nih.gov/pubmed/25316352
http://dx.doi.org/10.1186/1471-2431-14-265