Art

J-GLOBAL ID：201202253502235047   Reference number：12A0046238

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

RNAポリメラーゼIIIサブユニットをコード化するPOLR3AおよびPOLR3Bにおける突然変異は常染色体劣性低ミエリン白質脳症を引き起こす

Author (16)： SAITSU Hirotomo (Dep. of Human Genetics, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004 ...) ,  OSAKA Hitoshi (Div. of Neurology, Clinical Res. Inst., Kanagawa Children’s Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama ...) ,  SASAKI Masayuki (Dep. of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho Kodaira, Tokyo 187-8551 ...) ,  TAKANASHI Jun-ichi (Dep. of Pediatrics, Kameda Medical Center, 929 Higashi-cho, Kamogawa-shi, Chiba 296-8602, JPN) ,  HAMADA Keisuke (Dep. of Biochemistry, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, JPN) ,  YAMASHITA Akio (Dep. of Molecular Biology, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama ...) ,  SHIBAYAMA Hidehiro (Dep. of Neurology, Kameda Medical Center, 929 Higashi-cho, Kamogawa-shi, Chiba 296-8602, JPN) ,  SHIINA Masaaki (Dep. of Biochemistry, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, JPN) ,  KONDO Yukiko (Dep. of Human Genetics, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004 ...) ,  NISHIYAMA Kiyomi (Dep. of Human Genetics, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004 ...) ,  TSURUSAKI Yoshinori (Dep. of Human Genetics, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004 ...) ,  MIYAKE Noriko (Dep. of Human Genetics, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004 ...) ,  DOI Hiroshi (Dep. of Human Genetics, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004 ...) ,  OGATA Kazuhiro (Dep. of Biochemistry, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, JPN) ,  INOUE Ken (Dep. of Mental Retardation and Birth Defect Res., National Inst. of Neuroscience, National Center of Neurology and ...) ,  MATSUMOTO Naomichi (Dep. of Human Genetics, Yokohama City Univ. Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004 ...)
Material： American Journal of Human Genetics  (AJHG)
Volume： 89  Issue： 5  Page： 644-651  Publication year： Nov. 11, 2011 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (7)： RNAポリメラーゼIII ,  サブユニット ,  突然変異 ,  常染色体 ,  劣性 ,  ミエリン ,  白質脳症