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Short description of the BTKbase : Defects in the Bruton tyrosine kinase (BTK) gene cause X-linked agammaglobulinemia. Agammaglobulinemia is characterized by failure to produce mature B lymphocyte cells. Two thirds of cases are familial, and one third of cases are believed to arise from new variations. Variations of the BTK gene are found in approximately 80% of patients with agammaglobulinemia.   Our other bioinformatics services: SH2base - Database for pathogenic SH2 domain variations KinMutBase - A registry of disease-causing variations in protein kinase domains
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