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Article

X linked agammaglobulinaemia with a 'leaky' phenotype.

Archives of disease in childhood - 1 Jun 1996

Jones A, Bradley L, Alterman L, Tarlow M, Thompson R, Kinnon C, Morgan G

Abstract excerpt

Typical X linked agammaglobulinaemia (XLA) is characterised by absence of immunoglobulin production and lack of mature B cells. The gene responsible for XLA has recently been identified, and codes for a B cell tyrosine kinase, BTK. A family affected by a B cell immunodeficiency, which is less severe than classical XLA, is described but they had a pedigree suggestive of X linked inheritance. Demonstration of a...

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Share to Child, Preschool
Share to Dosage Compensation, Genetic
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8758136
DOI: 10.1136/adc.74.6.548
PMCID: PMC1511560

Genes

BTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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