New insights into the phenotype of FARS2 deficiency.-论文-万方医学网

作者： Elise,Vantroys ^[1] ; Austin,Larson ^[2] ; Marisa,Friederich ^[2] ; Kaz,Knight ^[2] ; Michael A,Swanson ^[2] ; Christopher A,Powell ^[3] ; Joél,Smet ^[1] ; Sarah,Vergult ^[4] ; Boel,De Paepe ^[1] ; Sara,Seneca ^[5] ; Herbert,Roeyers ^[6] ; Björn,Menten ^[4] ; Michal,Minczuk ^[3] ; Arnaud,Vanlander ^[1] ; Johan,Van Hove ^[2] ; Rudy,Van Coster ^[7]

作者单位： Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium. ^[1] Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA. ^[2] MRC Mitochondrial Biology Unit, University of Cambridge, Hills Road, Cambridge CB2 0XY, UK. ^[3] Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium. ^[4] Center for Medical Genetics, UZ Brussel and Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium. ^[5] Department of Experimental Clinical and Health Psychology, Ghent University, Ghent, Belgium. ^[6] Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium. Electronic address: rudy.vancoster@ugent.be. ^[7]

主题词青少年(Adolescent);氨酰基tRNA合成酶类(Amino Acyl-tRNA Synthetases);氨基酰化(Aminoacylation);脑(Brain);细胞, 培养的(Cells, Cultured);癫痫(Epilepsy);女(雌)性(Female);成纤维细胞(Fibroblasts);杂合子(Heterozygote);人类(Humans);婴儿(Infant);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);线粒体(Mitochondria);线粒体蛋白质类(Mitochondrial Proteins);肌, 骨骼(Muscle, Skeletal);突变, 误义(Mutation, Missense);氧耗量(Oxygen Consumption);表型(Phenotype);苯丙氨酸tRNA连接酶(Phenylalanine-tRNA Ligase);RNA, 转移(RNA, Transfer);序列分析, DNA(Sequence Analysis, DNA);痉挛性截瘫, 遗传性(Spastic Paraplegia, Hereditary)

DOI 10.1016/j.ymgme.2017.10.004

PMID 29126765

发布时间 2021-01-09

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New insights into the phenotype of FARS2 deficiency.

Molecular genetics and metabolism

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Molecular genetics and metabolism

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New insights into the phenotype of FARS2 deficiency.

Molecular genetics and metabolism

相似文献

Molecular genetics and metabolism

相关期刊

检索历史清除