Mutations of theBtkgene in 12 unrelated families with X-linked agammaglobulinemia in Japan
✍ Scribed by Shigetoshi Kobayashi,Tsutomu Iwata,Makiko Saito,Ryu Iwasaki…
- Book ID
- 118291935
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 860 KB
- Volume
- 97
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Bruton's tyrosine kinase (BTK) is involved in B-cell development. Mutation of BTK results in X-linked agammaglobulinemia (XLA). BTK is expressed in most haemopoietic lineages except mature T cells and plasma cells. We identified six novel and two known mutations of BTK in 11 Chinese XLA patients fro
Mutation pattern was characterized in the Bruton's tyrosine kinase gene (BTK) in 26 patients with X-linked agammaglobulinemia, the first described immunoglobulin deficiency, and was related to BTK expression. A total of 24 different mutations were identified. Most BTK mutations were found to result
## Communicated by David Ginsburg Bruton's tyrosine kinase (Btk) has been identified as the protein responsible for the primary immunodeficiency X-linked agammaglobulinemia (XLA) and has been described as a new member of Srcrelated cytoplasmic protein tyrosine kinases. We have recently characteriz