Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.-论文-万方医学网

作者： Fu-Bo,Cheng ^[1] ; Jia-Chun,Feng ; Ling-Yan,Ma ; Jing,Miao ; Thomas,Ott ; Xin-Hua,Wan ; Kathrin,Grundmann

作者单位： Department of Medical Genetics, University of Tuebingen, 72076, Germany; Department of Neurology, the First Hospital of Jilin University, Changchun, PR China. ^[1]

主题词成年人(Adult);凋亡调节蛋白质类(Apoptosis Regulatory Proteins);天冬氨酸(Aspartic Acid);细胞系, 肿瘤(Cell Line, Tumor);队列研究(Cohort Studies);DNA突变分析(DNA Mutational Analysis);DNA结合蛋白质类(DNA-Binding Proteins);张力障碍(Dystonic Disorders);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);HEK293细胞(HEK293 Cells);人类(Humans);男(雄)性(Male);分子伴侣(Molecular Chaperones);突变(Mutation);神经母细胞瘤(Neuroblastoma);核蛋白质类(Nuclear Proteins);转染(Transfection);缬氨酸(Valine)

DOI 10.1002/mds.25921

PMID 24862462

发布时间 2022-12-07

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Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.

Movement disorders

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Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.

Movement disorders

相似文献

Movement disorders

相关期刊

检索历史清除