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Transcriptional regulatory defects in the first intron of Bruton’s tyrosine kinase

✍ Scribed by Dong-Min Shin; Eun-Kyeong Jo; Hirokazu Kanegane; Takeshi Futatani; Meina Zhao; Chang-Hwa Song; Atsushi Yamagishi; Toshio Miyawaki


Book ID
108972627
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
157 KB
Volume
50
Category
Article
ISSN
1328-8067

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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