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Identification of a Novel Mutation of Bruton`s Tyrosine Kinase(BTK) Gene in a X-linked Agammaglobulinemia(XLA) Family

Young-Jong Baek, Jae-Ho Lee, Jung-Soo Kim, Chang-Hwa Song, Jeong-Kyu Park, Hwa-Jung Kim, Eun-Kyeong Jo

Clin Exp Pediatr. 2000;43(12):1599-1607. Published online December 15, 2000

X-linked agammaglobulinemia(XLA) is a heritable humoral immunodeficiency disease characterized by inefficient expansion of pre-B cells into later B cell stages or incomplete differentiation of B cell precursors to pre-B cells. The gene mutated in XLA was identified as a cytoplasmic tyrosine kinase, named Bruton`s tyrosine kinase(BTK). In this report we investigated the characteristics of immune cells, the patterns of intracellular...

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