Article
Rare variants in the TREX1 gene and susceptibility to autoimmune diseases.
BioMed research international - 1 Jan 2013
Barizzone Nadia, Monti Sara, Mellone Simona, Godi Michela, Marchini Maurizio, Scorza Raffaella, Danieli Maria G, D'Alfonso Sandra
Abstract excerpt
TREX1 (DNase III) is an exonuclease involved in response to oxidative stress and apoptosis. Heterozygous mutations in TREX1 were previously observed in patients with systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS). We performed a mutational analysis of the TREX1 gene on three autoimmune diseases: SLE (210 patients) and SS (58 patients), to confirm a TREX1 involvement in the Italian population, and...
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