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Autor:
T Lester, Jouni Väliaho, Hans D. Ochs, Mary Ellen Conley, Igor B. Resnick, Mauno Vihinen, C. I. E. Smith, Sau-Ping Kwan
Publikováno v:
Human Mutation. 13:280-285
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations lists 544 mutation entries from 471 unrelated families showing