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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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| Publicado no: | BMC Pediatr |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4286934/ https://ncbi.nlm.nih.gov/pubmed/25316352 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-14-265 |
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