RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.-论文-万方医学网

作者： Hatasu,Kobayashi ^[1] ; Miroslav,Brozman ^[2] ; Kateřina,Kyselová ^[3] ; Daša,Viszlayová ^[2] ; Takaaki,Morimoto ^[1] ; Martin,Roubec ^[4] ; David,Školoudík ^[5] ; Andrea,Petrovičová ^[6] ; Dominik,Juskanič ^[2] ; Jozef,Strauss ^[7] ; Marián,Halaj ^[7] ; Peter,Kurray ^[7] ; Marián,Hranai ^[8] ; Kouji H,Harada ^[8] ; Sumiko,Inoue ^[1] ; Yukako,Yoshida ^[1] ; Toshiyuki,Habu ^[9] ; Roman,Herzig ^[9] ; Shohab,Youssefian ^[10] ; Akio,Koizumi ^[11]

作者单位： Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, 6068501 Japan. ^[1] Department of Neurology, Faculty Hospital Nitra, Constantine Philosopher University, Nitra, 94901 Slovakia. ^[2] Center of Medical Genetics, Frýdek-Místek, 370 08 Czech Republic. ^[3] Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, 6068507 Japan. ^[4] Department of Neurology, Comprehensive Stroke Center, Ostrava University Faculty of Medicine and University Hospital, Ostrava-Poruba, 708 52 Czech Republic. ^[5] Center for Research and Science, Department of Nursing, Faculty of Health Science, Palacký University, Olomouc, 77515 Czech Republic. ^[6] Department of Radiology, Faculty Hospital Nitra, Constantine Philosopher University, Nitra, 94901 Slovakia. ^[7] Cardio Center, Faculty Hospital Nitra, Constantine Philosopher University, Nitra, 94901 Slovakia. ^[8] Laboratory of Nutritional Sciences, Department of Food Science and Nutrition, Mukogawa Women's University, Nishinomiya, 6638121 Japan. ^[9] Department of Neurology, Comprehensive Stroke Center, Charles University Faculty of Medicine and University Hospital, Hradec Králové, 500 38 Czech Republic. ^[10] Laboratory of Molecular Biosciences, Graduate School of Medicine, Kyoto University, Kyoto, 6068501 Japan. ^[11]

主题词腺苷三磷酸酶类(Adenosine Triphosphatases);成年人(Adult);等位基因(Alleles);细胞运动(Cell Movement);儿童(Child);捷克共和国(Czech Republic);外显子(Exons);女(雌)性(Female);基因型(Genotype);单倍型(Haplotypes);人类(Humans);磁共振血管造影术(Magnetic Resonance Angiography);男(雄)性(Male);中年人(Middle Aged);脑底异常血管网病(Moyamoya Disease);系谱(Pedigree);多态性, 单核苷酸(Polymorphism, Single Nucleotide);序列分析, DNA(Sequence Analysis, DNA);斯洛伐克(Slovakia);泛素蛋白连接酶类(Ubiquitin-Protein Ligases);青年人(Young Adult)

DOI 10.1371/journal.pone.0164759

PMID 27736983

发布时间 2022-12-07

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RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.

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RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.

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