A deep intronic BTK variant underlies X-linked agammaglobulinemia
Author:
Funder
Japan Society for the Promotion of Science
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10875-024-01694-w.pdf
Reference5 articles.
1. Vaz-Drago R, Custódio N, Carmo-Fonseca M. Deep intronic mutations and human disease. Hum Genet. 2017;136:1093–111.
2. Chen XF, Wang WF, Zhang YD, Zhao W, Wu J, Chen TX. Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000–2015). Medicine. 2016;95(32): e4544.
3. Zhu Q, Zhang M, Rawlings DJ, Vihinen M, Hagemann T, Saffran DC, et al. Deletion within the Src homology domain 3 of Bruton’s tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). J Exp Med. 1994;180:461–70.
4. Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, et al. Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. J Clin Invest. 2019;129(2):583–97.
5. Jang W, Park J, Chae H, Kim M. Comparison of in silico tools for splice-altering variant prediction using established spliceogenic variants: an end-user's point of view. Int J Genomics. 2022;2022:5265686. https://doi.org/10.1155/2022/5265686
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