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J-GLOBAL ID：201202294512958738   整理番号：12A0888337

RNAメチルトランスフェラーゼをコードするNSUN2の変異は常染色体劣性知的障害を引き起こす

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

著者 (24件)： KHAN Muzammil Ahmad (Molecular Neuropsychiatry & Dev. Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T ...) ,  KHAN Muzammil Ahmad (Dep. of Biochemistry, Quaid-i-Azam Univ., Islamabad 45320, PAK) ,  RAFIQ Muhammad Arshad (Molecular Neuropsychiatry & Dev. Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T ...) ,  NOOR Abdul (Molecular Neuropsychiatry & Dev. Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T ...) ,  HUSSAIN Shobbir (Wellcome Trust Centre for Stem Cell Res., Tennis Court Road, Cambridge CB2 1QR, GBR) ,  FLORES Joana V. (Wellcome Trust Centre for Stem Cell Res., Tennis Court Road, Cambridge CB2 1QR, GBR) ,  RUPP Verena (Inst. of Human Genetics, Medical Univ. of Graz, Graz A-8010, AUT) ,  VINCENT Akshita K. (Molecular Neuropsychiatry & Dev. Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T ...) ,  MALLI Roland (Inst. of Molecular Biology and Biochemistry, Medical Univ. of Graz, Graz A-8010, AUT) ,  ALI Ghazanfar (Dep. of Biochemistry, Quaid-i-Azam Univ., Islamabad 45320, PAK) ,  ALI Ghazanfar (Center of Excellence in Biotechnology Res., King Saud Univ., Riyadh 11451, Saudi Arabia) ,  KHAN Falak Sher (Dep. of Biochemistry, Quaid-i-Azam Univ., Islamabad 45320, PAK) ,  ISHAK Gisele E. (Dep. of Radiology, Seattle Children’s Hospital, Univ. of Washington, Seattle, WA 98105, USA) ,  DOHERTY Dan (Div. of Genetics and Developmental Medicine, Univ. of Washington and Children’s Hospital, Seattle, WA 98105, USA) ,  WEKSBERG Rosanna (Program in Genetics and Genome Biology, Res. Inst., The Hospital for Sick Children, Toronto, ON M5G 1X8, CAN) ,  AYUB Muhammad (Tees, Esk, and Wear Valleys National Health Serv. Foundation Trust, Darlington DL2 2TS, GBR) ,  AYUB Muhammad (School for Health and Medicine, Univ. of Durham, Stockton-On-Tees TS17 6BH, GBR) ,  WINDPASSINGER Christian (Molecular Neuropsychiatry & Dev. Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T ...) ,  WINDPASSINGER Christian (Inst. of Human Genetics, Medical Univ. of Graz, Graz A-8010, AUT) ,  IBRAHIM Shahnaz (Dep. of Paediatrics, Aga Khan Univ., Karachi 75800, PAK) ,  FRYE Michaela (Wellcome Trust Centre for Stem Cell Res., Tennis Court Road, Cambridge CB2 1QR, GBR) ,  ANSAR Muhammad (Dep. of Biochemistry, Quaid-i-Azam Univ., Islamabad 45320, PAK) ,  VINCENT John B. (Molecular Neuropsychiatry & Dev. Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T ...) ,  VINCENT John B. (Dep. of Psychiatry, Univ. of Toronto, Toronto, ON M5T 1R8, CAN)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 90  号： 5  ページ： 856-863  発行年： 2012年05月04日 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD)  言語： 英語 (EN)

タイトルに関連する用語 (5件)： RNAメチルトランスフェラーゼ ,  変異 ,  常染色体 ,  劣性 ,  知的障害