文献

J-GLOBAL ID：201202233912116427   整理番号：12A0888346

プレmRNAのスプライセオソーム複合体の構成成分SF3B4のハプロ不全はNager症候群を引き起こす

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

著者 (29件)： BERNIER Francois P. (Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN) ,  BERNIER Francois P. (Alberta Children’s Hospital Res. Inst., Calgary, AB T3B 6A8, CAN) ,  CALUSERIU Oana (Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN) ,  NG Sarah (Dep. of Genome Sciences, Univ. of Washington, Seattle, WA 98195, USA) ,  SCHWARTZENTRUBER Jeremy (McGill Univ. and Genome Quebec Innovation Centre, Montreal, QC H3A 0G1, CAN) ,  BUCKINGHAM Kati J. (Dep. of Pediatrics, Univ. of Washington, Seattle, WA 98105, USA) ,  INNES A. Micheil (Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN) ,  INNES A. Micheil (Alberta Children’s Hospital Res. Inst., Calgary, AB T3B 6A8, CAN) ,  JABS Ethylin Wang (Dep. of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA) ,  INNIS Jeffrey W. (Departments of Human Genetics and Pediatrics, Univ. of Michigan, Ann Arbor, MI 48109, USA) ,  SCHUETTE Jane L. (Departments of Human Genetics and Pediatrics, Univ. of Michigan, Ann Arbor, MI 48109, USA) ,  GORSKI Jerome L. (Departments of Child Health and Pathology and Anatomical Sciences, Univ. of Missouri-Columbia School of Medicine ...) ,  BYERS Peter H. (Dep. of Pathology, Univ. of Washington, Seattle, WA 98195, USA) ,  ANDELFINGER Gregor (Dep. of Pediatrics, Univ. de Montreal, Montreal, QC H3A 1B1, CAN) ,  SIU Victoria (Dep. of Pediatrics, Univ. of Western Ontario, London, ON N6A 5W9, CAN) ,  LAUZON Julie (Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN) ,  LAUZON Julie (Alberta Children’s Hospital Res. Inst., Calgary, AB T3B 6A8, CAN) ,  FERNANDEZ Bridget A. (Disciplines of Genetics and Medicine, Memorial Univ. of Newfoundland, St. John’s, NL A1B 3V6, CAN) ,  MCMILLIN Margaret (Dep. of Pediatrics, Univ. of Washington, Seattle, WA 98105, USA) ,  SCOTT Richard H. (Dep. of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, GBR) ,  SCOTT Richard H. (Clinical and Molecular Genetics Unit, Inst. of Child Health, London WC1N 1EH, GBR) ,  RACHER Hilary (Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN) ,  MAJEWSKI Jacek (Dep. of Human Genetics, McGill Univ., Montreal, QC H3A 1B1, CAN) ,  NICKERSON Deborah A. (Dep. of Genome Sciences, Univ. of Washington, Seattle, WA 98195, USA) ,  SHENDURE Jay (Dep. of Genome Sciences, Univ. of Washington, Seattle, WA 98195, USA) ,  BAMSHAD Michael J. (Dep. of Genome Sciences, Univ. of Washington, Seattle, WA 98195, USA) ,  BAMSHAD Michael J. (Dep. of Pediatrics, Univ. of Washington, Seattle, WA 98105, USA) ,  PARBOOSINGH Jillian S. (Dep. of Medical Genetics, Univ. of Calgary, Calgary AB T3B 6A8, CAN) ,  PARBOOSINGH Jillian S. (Alberta Children’s Hospital Res. Inst., Calgary, AB T3B 6A8, CAN)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 90  号： 5  ページ： 925-933  発行年： 2012年05月04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)： mRNA ,  スプライセオソーム ,  複合体 ,  構成成分 ,  ハプロ不全 ,  症候群