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Article

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

Nucleic acids research - 1 Jan 1998

Vihinen M, Brandau O, Brandén L J, Kwan S P, Lappalainen I, Lester T, Noordzij J G, Ochs H D, Ollila J, Pienaar S M, Riikonen P, Saha B K, Smith C I

Abstract excerpt

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 463 mutation entries from 406 unrelated families showing 303 unique molecular events. In addition to mutations, the database also lists variants or polymorphisms. Each patient is...

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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: 9399844
DOI: 10.1093/nar/26.1.242
PMCID: PMC147244

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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