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