Articles with "r229q mutation" as a keyword



The R229Q mutation of Rag2 does not characterize severe immunodeficiency in mice

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Published in 2019 at "Scientific Reports"

DOI: 10.1038/s41598-019-39496-5

Abstract: RAG1 or RAG2 mutations are associated with defects in V(D)J recombination activity, causing severe immunodeficiency with a wide spectrum of clinical phenotypes. A R229Q mutation of RAG2 was identified in patients with severe combined immunodeficiency… read more here.

Keywords: severe immunodeficiency; rag2; r229q mutation; mutation ... See more keywords