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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...

詳細記述

保存先:
書誌詳細
出版年:BMC Pediatr
主要な著者: Zheng, Bixia, Zhang, Yayuan, Jin, Yu, Yu, Haiguo
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2014
主題:
オンライン・アクセス: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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