Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
第一作者:
Gillian I,Rice
第一单位:
Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
作者:
主题词
腺苷脱氨酶(Adenosine Deaminase);青少年(Adolescent);成年人(Adult);自身抗体(Autoantibodies);神经系统自身免疫疾病(Autoimmune Diseases of the Nervous System);病例对照研究(Case-Control Studies);儿童(Child);儿童, 学龄前(Child, Preschool);脱氧核糖核酸外切酶类(Exodeoxyribonucleases);女(雌)性(Female);基因表达调控(Gene Expression Regulation);遗传异质性(Genetic Heterogeneity);基因型(Genotype);人类(Humans);婴儿(Infant);干扰素Ⅰ型(Interferon Type I);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);中和试验(Neutralization Tests);磷蛋白类(Phosphoproteins);前瞻性研究(Prospective Studies);RNA, 信使(RNA, Messenger);RNA结合蛋白质类(RNA-Binding Proteins);核糖核酸酶H(Ribonuclease H);增量调节(Up-Regulation);青年人(Young Adult)
DOI
10.1016/S1474-4422(13)70258-8
PMID
24183309
发布时间
2024-05-12
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The Lancet. Neurology
1159-69页
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