BTKbase -- Mutation registry for X-linked agammaglobulinemia

What you can do:
Search for information on mutations of Bruton's agammaglobulinemia tyrosine kinase that causes XLA.
Highlights:
  • BTKbase is compiled and the 2006 update lists over 1000 mutation entries.
  • In addition to mutations, the database also lists variants or polymorphisms.
  • Each patient is given a unique patient identity number (PIN). Information is included regarding the phenotype including symptoms.
Keywords:
  • X-linked agammaglobulinemia
  • XLA
  • human immunodeficiency
  • Bruton's agammaglobulinemia tyrosine kinase mutations
  • BTK
  • human genetic mutations
  • human genetic disease
This record last updated: 06-28-2006
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