Articles with "mutations topoisomerase" as a keyword



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Mutations in topoisomerase IIβ result in a B cell immunodeficiency

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Published in 2019 at "Nature Communications"

DOI: 10.1038/s41467-019-11570-6

Abstract: 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… read more here.

Keywords: immunodeficiency; cell development; mutations topoisomerase; cell immunodeficiency ... See more keywords