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J-GLOBAL ID：201202283912294403   整理番号：12A0934013

Cantu症候群はABCC9の突然変異に起因する

Cantu Syndrome Is Caused by Mutations in ABCC9

著者 (23件)： VAN BON Bregje W.M. (Dep. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Inst. for Genetic and Metabolic Disorders ...) ,  GILISSEN Christian (Dep. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Inst. for Genetic and Metabolic Disorders ...) ,  GRANGE Dorothy K. (Dep. of Pediatrics, Div. of Genetics and Genomic Medicine, Washington Univ. School of Medicine, St. Louis, MO 63110, USA) ,  HENNEKAM Raoul C.M. (Dep. of Paediatrics and Translational Genetics, Academic Medical Center, Univ. of Amsterdam, 1105AZ Amsterdam, NLD) ,  KAYSERILI Huelya (Medical Genetics Dep., Istanbul Medical Fac., Istanbul Univ., Istanbul 34093, TUR) ,  ENGELS Hartmut (Inst. of Human Genetics, Univ. of Bonn, 53127 Bonn, DEU) ,  REUTTER Heiko (Inst. of Human Genetics, Univ. of Bonn, 53127 Bonn, DEU) ,  REUTTER Heiko (Dep. of Neonatology, Children’s Hospital, Univ. of Bonn, 53127 Bonn, DEU) ,  OSTERGAARD John R. (Centre for Rare Diseases, Dep. of Pediatrics, Aarhus Univ. Hospital Skejby, 8200 Aarhus N, DNK) ,  MORAVA Eva (Dep. of Pediatrics and Inst. for Genetic and Metabolic Disease, Radboud Univ. Nijmegen Medical Centre, Radboud Univ. ...) ,  TSIAKAS Konstantinos (Dep. of Pediatrics, Univ. Medical Center Eppendorf, 20246 Hamburg, DEU) ,  ISIDOR Bertrand (Clinical Genetics Unit, Univ. Hospital Nantes, Nantes 44093, FRA) ,  LE MERRER Martine (Dep. de Genetique, Univ. Paris Descartes, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  ESER Metin (Medical Genetics Dep., Istanbul Medical Fac., Istanbul Univ., Istanbul 34093, TUR) ,  WIESKAMP Nienke (Dep. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Inst. for Genetic and Metabolic Disorders ...) ,  DE VRIES Petra (Dep. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Inst. for Genetic and Metabolic Disorders ...) ,  STEEHOUWER Marloes (Dep. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Inst. for Genetic and Metabolic Disorders ...) ,  VELTMAN Joris A. (Dep. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Inst. for Genetic and Metabolic Disorders ...) ,  ROBERTSON Stephen P. (Dep. of Paediatrics and Child Health, Dunedin School of Medicine, Univ. of Otago, Dunedin 9054, NZL) ,  BRUNNER Han G. (Dep. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Inst. for Genetic and Metabolic Disorders ...) ,  DE VRIES Bert B.A. (Dep. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Inst. for Genetic and Metabolic Disorders ...) ,  HOISCHEN Alexander (Dep. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Inst. for Genetic and Metabolic Disorders ...) ,  HOISCHEN Alexander (Center for Medical Genetics and Molecular Medicine, Haukeland Univ. Hospital, 5021 Bergen, NOR)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 90  号： 6  ページ： 1094-1101  発行年： 2012年06月08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 (3件)： 症候群 ,  突然変異 ,  起因