Article
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
Nucleic acids research - 1 Jan 1997
Vihinen M, Belohradsky B H, Haire R N, Holinski-Feder E, Kwan S P, Lappalainen I, Lehväslaiho H, Lester T, Meindl A, Ochs H D, Ollila J, Vorechovsky I, Weiss M, 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 368 entries from 318 unrelated families showing 228 unique molecular events. In addition to mutations the database lists also some polymorphisms and site-directed mutations. Each...
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