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Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient

BACKGROUND: X-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton’s tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature...

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Main Authors: Lim, Lee-Moay, Chang, Jer-Ming, Wang, I-Fang, Chang, Wei-Chiao, Hwang, Daw-Yang, Chen, Hung-Chun
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3849551/
https://ncbi.nlm.nih.gov/pubmed/24074005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-13-150
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