B-cell-specific demethylation ofBTK, the defective gene in X-linked agammaglobulinemia
β Scribed by Ornella Parolini; Jurg Rohrer; Linda H. Shapiro; Mary Ellen Conley
- Publisher
- Springer-Verlag
- Year
- 1995
- Tongue
- English
- Weight
- 765 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0093-7711
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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
In an attempt to characterize the genes that cause immunodeficiencies such as X-linked agammaglobulinemia (XLA) and severe combined immunodeficiency (SCID) we established precursor B-cell lines by transforming the patients' bone marrow cells with Epstein-Barr viruses. DNA rearrangements of immunoglo