Art

J-GLOBAL ID：200902235007498364   Reference number：09A0023430

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

リボゾーム蛋白質L5とL11の突然変異はDiamond-Blackfan貧血患者の口蓋裂と母指変形とに関与する

Author (30)： GAZDA Hanna T. (Div. of Genetics and Program in Genomics, The Manton Center for Orphan Disease Res., Children’s Hospital Boston ...) ,  GAZDA Hanna T. (Harvard Medical School, Boston, MA 02115, USA) ,  SHEEN Mee Rie (Div. of Genetics and Program in Genomics, The Manton Center for Orphan Disease Res., Children’s Hospital Boston ...) ,  VLACHOS Adrianna (Feinstein Inst. for Medical Res., Manhasset, NY 11030, USA) ,  VLACHOS Adrianna (Schneider Children’s Hospital, Albert Einstein Coll. of Medicine, New Hyde Park, NY 11040, USA) ,  CHOESMEL Valerie (Univ. de Toulouse, Lab. de Biologie Moleculaire Eucaryote, Toulouse F-31000, FRA) ,  CHOESMEL Valerie (CNRS, UMR 5099, Toulouse F-31000, FRA) ,  O'DONOHUE Marie-francoise (Univ. de Toulouse, Lab. de Biologie Moleculaire Eucaryote, Toulouse F-31000, FRA) ,  O'DONOHUE Marie-francoise (CNRS, UMR 5099, Toulouse F-31000, FRA) ,  SCHNEIDER Hal (Div. of Genetics and Program in Genomics, The Manton Center for Orphan Disease Res., Children’s Hospital Boston ...) ,  DARRAS Natasha (Div. of Genetics and Program in Genomics, The Manton Center for Orphan Disease Res., Children’s Hospital Boston ...) ,  HASMAN Catherine (Div. of Genetics and Program in Genomics, The Manton Center for Orphan Disease Res., Children’s Hospital Boston ...) ,  SIEFF Colin A. (Harvard Medical School, Boston, MA 02115, USA) ,  SIEFF Colin A. (Div. of Pediatric Hematology, Children’s Hospital Boston, Boston, MA 02115, USA) ,  NEWBURGER Peter E. (Dep. of Pediatrics, Univ. of Massachusetts Medical School, Worcester, MA 01655, USA) ,  BALL Sarah E. (Dep. of Cellular and Molecular Medicine, St.George’s Univ. of London, London SW17 ORE, GBR) ,  NIEWIADOMSKA Edyta (Dep. of Paediatric Haematology/Oncology, Medical Univ. of Warsaw, Warsaw 00-576, POL) ,  MATYSIAK Michal (Dep. of Paediatric Haematology/Oncology, Medical Univ. of Warsaw, Warsaw 00-576, POL) ,  ZAUCHA Jan M. (Dep. of Propedeutic Oncology, Medical Univ. of Gdansk, Gdansk 81-519, POL) ,  GLADER Bertil (Div. of Pediatric Hematology/Oncology, Stanford Univ. School of Medicine, Stanford, CA 94304, USA) ,  NIEMEYER Charlotte (Div. of Paediatric Haematology and Oncology, Dep. of Paediatrics, Univ. of Freiburg, Freiburg 79106, DEU) ,  MEERPOHL Joerg J. (Div. of Paediatric Haematology and Oncology, Dep. of Paediatrics, Univ. of Freiburg, Freiburg 79106, DEU) ,  ATSIDAFTOS Eva (Feinstein Inst. for Medical Res., Manhasset, NY 11030, USA) ,  ATSIDAFTOS Eva (Schneider Children’s Hospital, Albert Einstein Coll. of Medicine, New Hyde Park, NY 11040, USA) ,  LIPTON Jeffrey M. (Feinstein Inst. for Medical Res., Manhasset, NY 11030, USA) ,  LIPTON Jeffrey M. (Schneider Children’s Hospital, Albert Einstein Coll. of Medicine, New Hyde Park, NY 11040, USA) ,  GLEIZES Pierre-emmanuel (Univ. de Toulouse, Lab. de Biologie Moleculaire Eucaryote, Toulouse F-31000, FRA) ,  GLEIZES Pierre-emmanuel (CNRS, UMR 5099, Toulouse F-31000, FRA) ,  BEGGS Alan H. (Div. of Genetics and Program in Genomics, The Manton Center for Orphan Disease Res., Children’s Hospital Boston ...) ,  BEGGS Alan H. (Harvard Medical School, Boston, MA 02115, USA)
Material： American Journal of Human Genetics  (AJHG)
Volume： 83  Issue： 6  Page： 769-780  Publication year： Dec. 12, 2008 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (7)： リボゾーム ,  蛋白質 ,  突然変異 ,  Diamond-Blackfan貧血 ,  患者 ,  口蓋裂 ,  母指