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SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

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作者单位: Unità Organizzativa di Supporto, Istituto di Ricerca Genetica e Biomedica, CNR, Milano, Italy [1] Division of Immunology, Department of Pediatrics, University of Gothenburg, Gothenburg, Sweden [2] Centro di Ricerca, Sviluppo e Studi Superiori in Sardegna Bioinformatics Laboratory, Parco [3] Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany [4] Department of Pediatric Hematology and Oncology, Ondokuz Mayis University, Samsun, Turkey [5] Institute of Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin, Berlin [6] Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium [7] Great Ormond Street Children's Hospital, London, United Kingdom [8] Department of Pediatric Hematology and Oncology, Ghent University Hospital, Ghent, Belgium [9] Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of North Carolina [10] Division of Pediatric Bone Marrow Transplantation, Department of Pediatrics, University of [11] National Institute of Child Health, Karachi, Pakistan [12] Department of Pediatrics, Charité-Universitaetsmedizin Berlin, Berlin, Germany [13] Division of Immunology, Children's Hospital Boston, Harvard Medical School, Boston, MA, United [14]
发布时间 2013-11-20
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Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research

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