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Article

Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Sept 2010

Ramalho V D, Oliveira Júnior E B, Tani S M, Roxo Júnior P, Vilela M M S

Abstract excerpt

Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent infections, markedly...

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Source

Identifiers

PMID: 20721470
DOI: 10.1590/s0100-879x2010007500079

Genes

BTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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