Clinical and Experimental Pediatrics

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Original Article

Protein and Genetic Analysis of Bruton's Tyrosine Kinase(Btk) in Three Korean X-linked Agammaglobulinemia(XLA) Families

Eun-Kyeong Jo, Chang-Hwa Song, Jeong-Kyu Park, Oh Kyung Lee, Dong-Soo Kim

Clin Exp Pediatr. 2002;45(1):44-54. Published online January 15, 2002

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...

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