title: Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
authors: Junya
authors: J
authors: Abe
authors: Kazushi
authors: K
authors: Izawa
authors: Ryuta
authors: R
authors: Nishikomori
authors: Tomonari
authors: T
authors: Awaya
authors: Tomoki
authors: T
authors: Kawai
authors: Takahiro
authors: T
authors: Yasumi
authors: Naoko
authors: N
authors: Hiragi
authors: Toru
authors: T
authors: Hiragi
authors: Yusei
authors: Y
authors: Ohshima
authors: Toshio
authors: T
authors: Heike
mesh_terms: D020274:Autoimmune Diseases of the Nervous System / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D002647:Chilblains / Q000150:complications / Q000235:genetics*; D002648:Child; D005090:Exodeoxyribonucleases / Q000235:genetics*; D005260:Female; D006801:Humans; D008178:Lupus Erythematosus, Cutaneous / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009421:Nervous System Malformations / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1