A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.-论文-万方医学网

作者： Junya,Abe ^[1] ; Kazuyuki,Nakamura ; Ryuta,Nishikomori ; Mitsuhiro,Kato ; Noriko,Mitsuiki ; Kazushi,Izawa ; Tomonari,Awaya ; Tomoki,Kawai ; Takahiro,Yasumi ; Itaru,Toyoshima ; Kazuko,Hasegawa ; Yusei,Ohshima ; Toru,Hiragi ; Yoji,Sasahara ; Yasuhiro,Suzuki ; Masahiro,Kikuchi ; Hitoshi,Osaka ; Takashi,Ohya ; Shinya,Ninomiya ; Satoshi,Fujikawa ; Manami,Akasaka ; Naomi,Iwata ; Akiko,Kawakita ; Makoto,Funatsuka ; Haruo,Shintaku ; Osamu,Ohara ; Hiroshi,Ichinose ; Toshio,Heike

作者单位： Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan. rnishiko@kuhp.kyoto-u.ac.jp. ^[1]

主题词青少年(Adolescent);自身免疫疾病(Autoimmune Diseases);神经系统自身免疫疾病(Autoimmune Diseases of the Nervous System);冻疮(Chilblains);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);脱氧核糖核酸外切酶类(Exodeoxyribonucleases);女(雌)性(Female);基因型(Genotype);健康调查(Health Surveys);人类(Humans);日本(Japan);男(雄)性(Male);单体GTP结合蛋白质类(Monomeric GTP-Binding Proteins);突变(Mutation);神经系统畸形(Nervous System Malformations);表型(Phenotype);磷蛋白类(Phosphoproteins);青年人(Young Adult)

DOI 10.1093/rheumatology/ket372

PMID 24300241

发布时间 2022-12-07

检索历史清除

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

Rheumatology (Oxford, England)

相似文献

Rheumatology (Oxford, England)

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

Rheumatology (Oxford, England)

相似文献

Rheumatology (Oxford, England)

相关期刊

检索历史清除