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Article

Mutations in btk in patients with presumed X-linked agammaglobulinemia.

American journal of human genetics - 1 May 1998

Conley M E, Mathias D, Treadaway J, Minegishi Y, Rohrer J

Abstract excerpt

In 1993, two groups showed that X-linked agammaglobulinemia (XLA) was due to mutations in a tyrosine kinase now called Btk. Most laboratories have been able to detect mutations in Btk in 80%-90% of males with presumed XLA. The remaining patients may have mutations in Btk that are difficult to identify, or they may have defects that are phenotypically similar to XLA but genotypically different. We analyzed 101...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

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Identifiers

PMID: 9545398
DOI: 10.1086/301828
PMCID: PMC1377085

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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