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

doi:10.1093/nar/24.1.160

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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 mol...

Topics

Agammaglobulinemia
Computer Communication Networks
Databases, Factual
Genetic Linkage
Humans
Mutation
X Chromosome
src Homology Domains

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