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Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

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第一作者: Verhagen,M.M.M.
作者单位: Department of Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre [1] Department of Pediatrics, Beatrixhospital, Gorinchem, Netherlands [2] Department of Pediatrics, Radboud University Nijmegen Medical Centre, Institute for Infection [3] Department of Pediatrics, Maasstad Hospital, Rotterdam, Netherlands [4] Department of Neurology, University Medical Centre Groningen, University of Groningen, Netherlands [5] Department of Rehabilitation, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands [6] Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands [7] Laboratory of Hematology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands [8] Department of Pediatric Neurology, Radboud University Nijmegen Medical Centre, Donders Institute [9] Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands [10] Departments of Pathology, The DNA-Diagnostic Laboratory of the Family Cancer Clinic, The [11] Department of Pediatric Neurology, VU University Medical Centre, Amsterdam, Netherlands [12] Department of Pediatric Immunology and Rheumatology, Wilhelmina Children's Hospital, University [13] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands [14] Division of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam, Netherlands [15] Cancer Research UK, Institute for Cancer Studies, Birmingham University, United Kingdom [16] Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain [17] Department of Pediatric Neurology, Erasmus Medical Centre, Rotterdam, Netherlands [18] Department of Neurology, Juliana Children's Hospital, Westeinde Hospital, The Hague, Netherlands [19] Department of Internal Medicine, Radboud University Nijmegen Medical Centre, Institute for [20] Department of Clinical Genetics, University Hospital Maastricht, Maastricht, Netherlands [21] Department of Neurology, Academic Medical Centre University of Amsterdam, Amsterdam, Netherlands [22] Department of Neurology, St Anna Hospital, Geldrop, Netherlands [23] Department of Clinical Genetics, VU University Medical Centre, Amsterdam, Netherlands [24]
发布时间 2013-11-20
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