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 mol...
Topics
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Databases, Factual
- Dinucleoside Phosphates
- Exons
- Genetic Linkage
- Humans
- Mutation
- Protein Structure, Secondary
- Protein-Tyrosine Kinases
- X Chromosome