Article
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
Nucleic acids research - 1 Jan 1998
Vihinen M, Brandau O, Brandén L J, Kwan S P, Lappalainen I, Lester T, Noordzij J G, Ochs H D, Ollila J, Pienaar S M, Riikonen P, Saha B K, 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 463 mutation entries from 406 unrelated families showing 303 u...
Topics
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Amino Acid Sequence
- Computer Communication Networks
- Databases, Factual
- Humans
- Information Storage and Retrieval
- Molecular Sequence Data
- Mutation
- Protein-Tyrosine Kinases
- X Chromosome