文献

J-GLOBAL ID：201202204483217007   整理番号：12A0046242

全エクソーム配列決定は,OhdoシンドロームのSay-Barber-Biesecker変異型を有する個体におけるヒストンアセチルトランスフェラーゼ遺伝子KAT6Bの突然変異を同定する

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

著者 (24件)： CLAYTON-SMITH Jill (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  O’SULLIVAN James (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  DALY Sarah (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  BHASKAR Sanjeev (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  DAY Ruth (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  ANDERSON Beverley (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  VOSS Anne K. (Div. of Molecular Medicine, Walter and Eliza Hall Inst., 1G Royal Parade, Melbourne, Victoria 3052, AUS) ,  VOSS Anne K. (Dep. of Medical Biology, the Univ. of Melbourne, Victoria 3052, AUS) ,  THOMAS Tim (Div. of Molecular Medicine, Walter and Eliza Hall Inst., 1G Royal Parade, Melbourne, Victoria 3052, AUS) ,  BIESECKER Leslie G. (National Human Genome Res. Inst., Genetic Diseases Res. Branch, Building 49, Room 4A56, Bethesda, MD 20892, USA) ,  SMITH Philip (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  FRYER Alan (Cheshire and Merseyside Genetics Serv., Alder Hey Hospital, Eaton Road, Liverpool L12 2AP, GBR) ,  CHANDLER Kate E. (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  KERR Bronwyn (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  TASSABEHJI May (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  LYNCH Sally-ann (National Centre for Medical Genetics, Our Lady’s Hospital, Crumlin, Dublin 12, Ireland) ,  KRAJEWSKA-WALASEK Malgorzata (Dep. of Medical Genetics, The Children’s Memorial Health Inst., Al. Dzieci Polskich 20, 04-730 Warsaw, POL) ,  MCKEE Shane (Northern Ireland Regional Genetics Serv., Dep. of Genetic Medicine, Belfast City Hospital, Lisburn Road, Belfast BT9 ...) ,  SMITH Janine (Dep. of Clinical Genetics, The Children’s Hospital at Westmead, NSW 2145, AUS) ,  SWEENEY Elizabeth (Cheshire and Merseyside Genetics Serv., Alder Hey Hospital, Eaton Road, Liverpool L12 2AP, GBR) ,  MANSOUR Sahar (Dep. of Medical Genetics, St George’s Medical School, Cranmer Terrace, London SW17 0RE, GBR) ,  MOHAMMED Shehla (Dep. of Clinical Genetics, 7^th Floor, Borough Wing, Guy’s Hospital, Great Maze Pond, London, SE1 9RT, GBR) ,  DONNAI Dian (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...) ,  BLACK Graeme (Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 89  号： 5  ページ： 675-681  発行年： 2011年11月11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 (8件)： 全エクソーム配列決定 ,  シンドローム ,  変異型 ,  個体 ,  ヒストンアセチルトランスフェラーゼ ,  遺伝子 ,  突然変異 ,  同定