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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| 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 |