Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

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言語	英語
著者	Wijaya Yogik Onky Silvana Department of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan Purevsuren Jamiyan Medical Genetics Laboratory, National Center for Maternal and Child Health, Khuvisgalchdyn Street, Bayangol District, Ulaanbaatar 16060, Mongolia Harahap Nur Imma Fatimah Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Universitas Gadjah Mada, Radiopoetro Building 5th floor, Jl. Farmako, Sekip Utara, Yogyakarta 55281, Indonesia Niba Emma Tabe Eko Department of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan Bouike, Yoshihiro Faculty of Nutrition, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan Nurputra Dian Kesumapramudya Department of Pediatrics, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia Rochmah Mawaddah Ar Department of Neurology, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia Thursina Cempaka Department of Neurology, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia Hapsara Sunartini Department of Pediatrics, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia 山口清次 Nishio, Hisahide Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan　/　Department of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan Shinohara, Masakazu Department of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan
主題	spinal muscular atrophy carrier SMN1 dried blood spot quantitative nested PCR
掲載誌名	INTERNATIONAL JOURNAL OF NEONATAL SCREENING
巻	6
号	2
ISSN（Online）	2409-515X
発行日	2020-06
DOI	10.3390/ijns6020043
出版者	MDPI
資料タイプ	学術雑誌論文
部局	医学部
備考	This research was supported by the Ministry of Education, Culture, Sports, Science and Technology, Japan, Grant No. 20K08197.