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Mutations in topoisomerase IIβ result in a B cell immunodeficiency
B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in TOP2B. TOP2B encodes a type II topoisomerase, an e...
Autores principales: | Broderick, Lori, Yost, Shawn, Li, Dong, McGeough, Matthew D., Booshehri, Laela M., Guaderrama, Marisela, Brydges, Susannah D., Kucharova, Karolina, Patel, Niraj C., Harr, Margaret, Hakonarson, Hakon, Zackai, Elaine, Cowell, Ian G., Austin, Caroline A., Hügle, Boris, Gebauer, Corinna, Zhang, Jianguo, Xu, Xun, Wang, Jian, Croker, Ben A., Frazer, Kelly A., Putnam, Christopher D., Hoffman, Hal M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692411/ https://www.ncbi.nlm.nih.gov/pubmed/31409799 http://dx.doi.org/10.1038/s41467-019-11570-6 |
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