Art

J-GLOBAL ID：201902275924281105   Reference number：19A2830023

Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion

脊髄性筋萎縮症:SMN1欠失のためのリアルタイムMCOP-PCRとPCR-RFLPを用いた新しいスクリーニングシステム

Author (16)： NIBA Emma Tabe Eko (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  AR ROCHMAH Mawaddah (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  HARAHAP Nur Imma Fatimah (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  AWANO Hiroyuki (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  MORIOKA Ichiro (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  IIJIMA Kazumoto (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  TAKESHIMA Yasuhiro (Hyogo Coll. of Medicine, Nishinomiya, JPN) ,  SAITO Toshio (National Hospital Organization Toneyama National Hospital, Toneyama, JPN) ,  SAITO Kayoko (Tokyo Women’s Medical Univ., Tokyo, JPN) ,  TAKEUCHI Atsuko (Kobe Pharmaceutical Univ., Kobe, JPN) ,  LAI Poh San (National Univ. Singapore, Singapore) ,  BOUIKE Yoshihiro (Kobe Gakuin Univ., Kobe, JPN) ,  MATSUO Masafumi (Kobe Gakuin Univ., Kobe, JPN) ,  NISHIO Hisahide (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  NISHIO Hisahide (Kobe Gakuin Univ., Kobe, JPN) ,  SHINOHARA Masakazu (Kobe Univ. Graduate School of Medicine, Kobe, JPN)
Material： Kobe Journal of Medical Sciences (Web)  (Kobe J Med Sci (Web))
Volume： 65  Issue： 2  Page： E44-E48  Publication year： 2019 
JST Material Number： U0095A  ISSN： 1883-0498  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *movement disorder ,...
Semi thesaurus term： *PCR-RFLP ,...

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JST classification (1)： Neurologic diagnosis  (GN02000H)

Reference (10)：

• Ar Rochmah, M., Harahap, N.I.F., Niba, E.T.E., et al. 2017. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. Brain Dev. 2017 May 15. pii: S0387-7604(17)30134-1. doi: 10.1016/j.braindev.2017.04.015. [Epub ahead of print]
• Brzustowicz, L.M., Lehner, T., Castilla, L.H., et al. 1990. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344: 540-541.
• Burghes, A.H. and Beattie, C.E. 2009. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. 10: 597-609.
• Feldkötter, M., Schwarzer, V., Wirth, R., et al. 2002. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR; fast and highly reliable carrietest and prediction of spinal muscular atrophy. Am J Hum Genet 70: 358-368.
• Kato, N., Sa'Adah, N., Ar Rochmah, M., et al. 2014 SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test. Kobe J Med Sci. 60: E78-85.

Terms in the title (6)： 脊髄性筋萎縮症 ,  欠失 ,  リアルタイム ,  PCR ,  PCR-RFLP ,  スクリーニングシステム