title: Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.
authors.forename: V
authors.initials: V
authors.lastname: Tüngler
authors.forename: R M
authors.initials: RM
authors.lastname: Silver
authors.forename: H
authors.initials: H
authors.lastname: Walkenhorst
authors.forename: C
authors.initials: C
authors.lastname: Günther
authors.forename: M A
authors.initials: MA
authors.lastname: Lee-Kirsch
mesh_terms: D000293:Adolescent; D001224:Aspartic Acid / Q000235:genetics; D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics*; D002647:Chilblains / Q000235:genetics*; D005090:Exodeoxyribonucleases / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008178:Lupus Erythematosus, Cutaneous / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D010750:Phosphoproteins; D001224:Aspartic Acid; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1