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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

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第一作者: Kirby,A.
作者单位: Broad Institute of Harvard and MIT, Cambridge, MA, United States, Science for Life Laboratory [1] Broad Institute of Harvard and MIT, Cambridge, MA, United States, Center for the Study of the [2] Office of the Clinical Direct., National Human Genome Research Institute, US National Institutes of [3] Broad Institute of Harvard and MIT, Cambridge, MA, United States, Department of Genetics, Harvard [4] Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, United States, Department [5] Institut National de la Santé et de la Recherche Médicale (INSERM) U983, Paris, France, Universit [6] Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague [7] Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, United States [8] Broad Institute of Harvard and MIT, Cambridge, MA, United States, Analytic and Translational [9] Broad Institute of Harvard and MIT, Cambridge, MA, United States, Department of Systems Biology [10] Broad Institute of Harvard and MIT, Cambridge, MA, United States, Department of Plant Systems [11] Broad Institute of Harvard and MIT, Cambridge, MA, United States [12] Commonwealth Medical College, Scranton, PA, United States [13] Broad Institute of Harvard and MIT, Cambridge, MA, United States, Department of Cell Research and [14]
发布时间 2013-11-20
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