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Purpose : Mutations in the Bruton' s tyrosine kinase(Btk) gene are responsible for X-linked agammaglobulinemia(
XLA), an immunodeficiency caused by a block in B cell differentiation. In this
report we characterize the protein expression and genetic mutations of Btk in four Korean patients
with three unrelated XLA families.
Methods : The resulting Btk proteins were characterized by a flow cytometry and the mutations
were analyzed... |