Article
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
Genes and immunity - 1 Jun 2011
Namjou B, Kothari P H, Kelly J A, Glenn S B, Ojwang J O, Adler A, Alarcón-Riquelme M E, Gallant C J, Boackle S A, Criswell L A, Kimberly R P, Brown E, Edberg J, Stevens A M, Jacob C O, Tsao B P, Gilkeson G S, Kamen D L, Merrill J T, Petri M, Goldman R R, Vila L M, Anaya J-M, Niewold T B, Martin J, Pons-Estel B A, Sabio J M, Callejas J L, Vyse T J, Bae S-C, Perrino F W, Freedman B I, Scofield R H, Moser K L, Gaffney P M, James J A, Langefeld C D, Kaufman K M, Harley J B, Atkinson J P
Abstract excerpt
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disorder with a complex pathogenesis in which genetic, hormonal and environmental factors have a role. Rare mutations in the TREX1 gene, the major mammalian 3'-5' exonuclease, have been reported in sporadic SLE cases. Some of these mutations have also been identified in a rare pediatric neurological condition featuring an inflammatory encephalopathy...
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