Article
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.
Human mutation - 1 Jan 1999
Vihinen M, Kwan S P, Lester T, Ochs H D, Resnick I, Väliaho J, Conley M E, Smith C I
Abstract excerpt
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 341 unique molecular events. In addition to mutations, a number of variants or polymorphisms have been found. Mutations in all the five domains of BTK cause the...
Topics
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Amino Acid Sequence
- Chromosome Mapping
- Genetic Linkage
- Humans
- Models, Genetic
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- Protein-Tyrosine Kinases