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Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing

โœ Scribed by K-W. Chan; T. Chen; L. Jiang; S. F-S. Fok; T-L. Lee; B-W. Lee; X. Yang; Y-L. Lau


Book ID
114831349
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
67 KB
Volume
33
Category
Article
ISSN
1744-3121

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## 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. Non Isotopic RNAse Cleavage Assay (NIRCA), followed by sequencing was used to screen for BTK mutations in 11 Italian XLA p

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Mutations in the Bruton tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in the peripheral blood. We evaluated 17 male Brazilian patients