文献

J-GLOBAL ID：201202227476822256   整理番号：12A1393865

臨床的発現におけるPRRT2突然変異は著しい変化により発作性ジスキネジアにおいて発現する

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression

著者 (14件)： LIU Qing (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  QI Zhan (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  WAN Xin-Hua (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  LI Jing-Yun (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  SHI Lei (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  LU Qiang (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  ZHOU Xiang-Qin (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  QIAO Lei (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  WU Li-Wen (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  LIU Xiu-Qin (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  YANG Wei (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  LIU Ying (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  CUI Li-Ying (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN) ,  ZHANG Xue (Chinese Acad. of Medical Sci.&Peking Union Medical Coll. (CAMS&PUMC), Beijing, CHN)
資料名： Journal of Medical Genetics  (Journal of Medical Genetics)
巻： 49  号： 2  ページ： 79-82  発行年： 2012年02月 
JST資料番号： T0190A  ISSN： 0022-2593  資料種別： 逐次刊行物 (A)
発行国： イギリス (GBR)  言語： 英語 (EN)

タイトルに関連する用語 (5件)： 臨床 ,  発現 ,  突然変異 ,  発作 ,  ジスキネジア