文献

J-GLOBAL ID：201002293126618301   整理番号：10A0884505

ナンセンス仲介mRNA崩壊に及ぼす対立遺伝子NFIX突然変異の様々な影響はソトス様のみならずマーシャルスミス症候群を生む

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

著者 (18件)： MALAN Valerie (INSERM U781 and Dep. de Genetique, Univ. Paris Descartes, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  RAJAN Diana (The Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton CB10 1SA, Cambridge, GBR) ,  THOMAS Sophie (INSERM U781 and Dep. de Genetique, Univ. Paris Descartes, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  SHAW Adam C. (Clinical and Molecular Genetics Unit, UCL Inst. of Child Health, 30 Guilford Street, London WC1N 1EH, GBR) ,  LOUIS DIT PICARD Helene (INSERM U781 and Dep. de Genetique, Univ. Paris Descartes, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  LAYET Valerie (Serv. de Genetique clinique, CH Le Havre, 55 bis rue Gustave Flaubert, Le Havre 76600, FRA) ,  TILL Marianne (Serv. de Genetique clinique, Hopital Femme Mere Enfant, Groupement Hospitalier Est, 59 boulevard Pinel, Bron 69677, FRA) ,  VAN HAERINGEN Arie (Dep. of Clinical Genetics, LUMC Leiden Univ. Medical Center, Postbus 9600, Leiden 2300 RC, NLD) ,  MORTIER Geert (Center for Medical Genetics, Antwerp Univ. Hospital, Prins Boudewijnlaan 43, B-2650 Edegem, BEL) ,  NAMPOOTHIRI Sheela (Dep. of Pediatric Genetics, Amrita Inst. of Medical Sciences and Res. Center, AIMS Ponekkara PO, Cochin 682041 ...) ,  PUSELJIC Silvija (Pediatrics Clinic, Clinical Hospital Centre Osijek (KBC), J. Huttlera 4, Osijek 31 000, HRV) ,  LEGEAI-MALLET Laurence (INSERM U781 and Dep. de Genetique, Univ. Paris Descartes, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  CARTER Nigel P. (The Wellcome Trust Sanger Inst., Wellcome Trust Genome Campus, Hinxton CB10 1SA, Cambridge, GBR) ,  VEKEMANS Michel (INSERM U781 and Dep. de Genetique, Univ. Paris Descartes, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  MUNNICH Arnold (INSERM U781 and Dep. de Genetique, Univ. Paris Descartes, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  HENNEKAM Raoul C. (Dep. of Clinical Genetics, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, NLD) ,  COLLEAUX Laurence (INSERM U781 and Dep. de Genetique, Univ. Paris Descartes, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  CORMIER-DAIRE Valerie (INSERM U781 and Dep. de Genetique, Univ. Paris Descartes, Hopital Necker-Enfants Malades, Paris 75015, FRA)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 87  号： 2  ページ： 189-198  発行年： 2010年08月13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 (6件)： 仲介 ,  mRNA崩壊 ,  対立遺伝子 ,  突然変異 ,  マーシャル ,  症候群