Articles with "onset autoinflammatory" as a keyword



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Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease

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Published in 2022 at "Annals of the Rheumatic Diseases"

DOI: 10.1136/annrheumdis-2021-221708

Abstract: Objectives We aim to investigate the genetic basis of a case of late-onset autoinflammatory disease characterised by arthritis, recurrent fever and skin rashes. Methods We performed whole-exome/genome sequencing and digital droplet PCR (ddPCR) to identify… read more here.

Keywords: mutation; autoinflammatory disease; late onset; onset autoinflammatory ... See more keywords