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Mutations in topoisomerase IIβ result in a B cell immunodeficiency
- Source :
- Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
- Publication Year :
- 2019
- Publisher :
- Nature Portfolio, 2019.
-
Abstract
- Topoisomerases are required to release topological stress on DNA during replication and transcription. Here, Broderick et al. report genetic variants in TOP2B that cause a syndromic B cell immunodeficiency associated with reduced TOP2B function, defects in B cell development and B cell activation.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 10
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.f68d775e267842bf9a3e97c19180cf33
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41467-019-11570-6