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The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients.

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第一作者： Thi Tuyet Dieu,Ngo

第一单位： Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, Queensland, Australia; Department of Physiology, Hue University of Medicine and Pharmacy, Hue University, Hue, Viet Nam.

作者： Thi Tuyet Dieu,Ngo ^[1] ; Rodney A,Lea ^[2] ; Neven,Maksemous ^[3] ; David A,Eccles ^[4] ; Robert A,Smith ^[3] ; Paul J,Dunn ^[3] ; Van Cao,Thao ^[3] ; Thi Minh Thi,Ha ^[5] ; Chi Bao,Bùi ^[6] ; Larisa M,Haupt ^[3] ; Rodney,Scott ^[7] ; Lyn R,Griffiths ^[3]

作者单位： Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, Queensland, Australia; Department of Physiology, Hue University of Medicine and Pharmacy, Hue University, Hue, Viet Nam. ^[1] Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, Queensland, Australia; Hunter Medical Research Institute, School of Biomedical Sciences, Newcastle, Australia. Electronic address: rodney.lea@qut.edu.au. ^[2] Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, Queensland, Australia. ^[3] The Malaghan Institute, Victoria University of Wellington, Wellington, New Zealand. ^[4] Department of Medical Genetics, Hue University of Medicine and Pharmacy, Hue University, Hue, Viet Nam. ^[5] School of Medicine, Vietnam National University, Ho Chi Min City, Viet Nam. ^[6] Hunter Medical Research Institute, School of Biomedical Sciences, Newcastle, Australia. ^[7]

关键词 Diagnostics Dravet Genetics Mutation SCN1A

医学主题词费用效益分析(Cost-Benefit Analysis);癫痫, 肌阵挛性(Epilepsies, Myoclonic);癫痫(Epilepsy);人类(Humans);突变(Mutation);痉挛, 婴儿(Spasms, Infantile);工艺学(Technology)

DOI 10.1016/j.eplepsyres.2021.106593

PMID 33721710

发布时间 2022-02-25

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