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Article

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

Nucleic acids research - 1 Jan 1996

Vihinen M, Iwata T, Kinnon C, Kwan S P, Ochs H D, Vorechovský I, 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 225 entries from 189 unrelated families showing 148 unique molecular events. Each patient is given a unique patient identity number (PIN). Information is included regarding the...

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Identifiers

PMID: 8594569
DOI: 10.1093/nar/24.1.160
PMCID: PMC145577

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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