- Original Article
- Characterization of Mutations in Bruton's Tyrosine Kinase(Btk)
Gene from Unrelated 3 X-linked Agammaglobulinemia(XLA)
Families in Korea
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Chang-Hwa Song, Eun-Kyeong Jo, Jeong-Kyu Park, Jung-Soo Kim, Soo-Jong Hong, Jae-Ho Lee
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Clin Exp Pediatr. 2002;45(3):302-310. Published online March 15, 2002
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Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells(PBMC) from three XLA families in Korea.
Methods : Heparinized venous blood samples were collected from four XLA patients... |
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- Case Report
- Identification of a Novel Mutation of Bruton`s Tyrosine Kinase(BTK) Gene in a X-linked Agammaglobulinemia(XLA) Family
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Young-Jong Baek, Jae-Ho Lee, Jung-Soo Kim, Chang-Hwa Song, Jeong-Kyu Park, Hwa-Jung Kim, Eun-Kyeong Jo
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Clin Exp Pediatr. 2000;43(12):1599-1607. Published online December 15, 2000
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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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- Erratum
- A Case of Joubert Syndrome
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Hye-Young Kim, Sun-Jun Kim, Jung-Soo Kim
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Accepted January 1, 1970
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Joubert syndrome is frequently associated with developmental delay and mental retardation, neonatal
tachypnea and apnea, abnormal eye movements, and ataxia. It is inherited by an autosomal recessive
trait.
The most significant and constant neuropathological finding is partial or total agenesis of cerebellar
vermis. Absence of the vermis results in a triangular-shaped mid-fourth ventricle and a "bat-wing" shaped fourth ventricle superiorly. The superior cerebellar peduncles... |
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