Article
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
American journal of human genetics - 1 Apr 2007
Rice Gillian, Newman William G, Dean John, Patrick Teresa, Parmar Rekha, Flintoff Kim, Robins Peter, Harvey Scott, Hollis Thomas, O'Hara Ann, Herrick Ariane L, Bowden Andrew P, Perrino Fred W, Lindahl Tomas, Barnes Deborah E, Crow Yanick J
Abstract excerpt
TREX1 constitutes the major 3'-->5' DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutieres syndrome at the AGS1 locus. Interestingly, Aicardi-Goutieres syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus....
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