文献

J-GLOBAL ID：201702256172623774   整理番号：17A1304585

乾燥血液スポットDNAでのリアルタイム修正COP-PCR技術を用いた脊髄性筋萎縮症の遺伝学的スクリーニング

Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA

著者 (17件)： Ar Rochmah Mawaddah (Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Harahap Nur Imma Fatimah (Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Niba Emma Tabe Eko (Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Nakanishi Kenta (Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Awano Hiroyuki (Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Morioka Ichiro (Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Iijima Kazumoto (Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Saito Toshio (Division of Child Neurology, Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Japan) ,  Saito Kayoko (Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan) ,  Lai Poh San (Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore) ,  Takeshima Yasuhiro (Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan) ,  Takeuchi Atsuko (Analytical Laboratory, Kobe Pharmaceutical University, Kobe, Japan) ,  Bouike Yoshihiro (Faculty of Nutrition, Kobe Gakuin University, Kobe, Japan) ,  Okamoto Maya (Center for Public Health, Pharmacological Evaluation Institute of Japan, Kawasaki, Japan) ,  Nishio Hisahide (Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Nishio Hisahide (Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Shinohara Masakazu (Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan)
資料名： Brain & Development  (Brain & Development)
巻： 39  号： 9  ページ： 774-782  発行年： 2017年10月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 背景:脊髄性筋萎縮症(SMA)はSMN1の変異により発生する...

シソーラス用語： *運動障害 ,...
準シソーラス用語： RFLP ,...

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著者キーワード (5件)： 乾燥血液スポット ,  リアルタイムmCOP PCR ,  SMN1 ,  SMN2 ,  脊髄性筋萎縮症

分類 (2件)： 神経系の診断  (GN02000H) ,  先天性疾患・奇形の診断  (GD03020G)

引用文献 (36件)：

• Nurputra DK, Lai PS, Harahap NIF, Morikawa S, Yamamoto T, Nishimura N, et al. Spinal muscular atrophy: from gene discovery to clinical trials. Ann Hum Genet 2013;77:435-63.
• Munsat TL, Davies KE. International SMA consortium meeting. Neuromuscul Disord 1992;2:423-8.
• Oskoui M, Levy G, Garland CJ, Gray JM, O’Hagen J, De Vivo DC, et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007;69:1931-6.
• Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
• McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997;60:1411-22.

タイトルに関連する用語 (8件)： 血液 ,  スポット ,  DNA ,  リアルタイム ,  COP ,  PCR技術 ,  脊髄性筋萎縮症 ,  遺伝学的スクリーニング