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Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes nager syndrome

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第一作者: Bernier,F.P.
作者单位: Department of Medical Genetics, University of Calgary, Calgary, AB T3B 6A8, Canada, Alberta [1] Department of Pediatrics, University of Washington, Seattle, WA 98105, United States [2] Department of Pediatrics, Université de Montréal, Montréal, QC H3A 1B1, Canada [3] Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 [4] Department of Medical Genetics, University of Calgary, Calgary, AB T3B 6A8, Canada [5] McGill University, Genome Québec Innovation Centre, Montréal, QC H3A 0G1, Canada [6] Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI 48109, United [7] Department of Genome Sciences, University of Washington, Seattle, WA 98195, United States [8] Disciplines of Genetics and Medicine, Memorial University of Newfoundland, St. John's, NL A1B 3V6 [9] Department of Pediatrics, University of Western Ontario, London, ON N6A 5W9, Canada [10] Department of Pathology, University of Washington, Seattle, WA 98195, United States [11] Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, United Kingdom [12] Department of Human Genetics, McGill University, Montréal, QC H3A 1B1, Canada [13] Departments of Child Health and Pathology and Anatomical Sciences, University of Missouri-Columbia [14]
发布时间 2013-11-20
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The American Journal of Human Genetics

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