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Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

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作者单位: First Department of Pediatrics, Agia Sofia Children's Hospital, University of Athens, Athens, Greece [1] Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Warsaw, Poland [2] Laboratoire de Biologie Moleculaire Eucaryote, UPS, Universite de Toulouse, Toulouse, France [3] Feinstein Institute for Medical Research, Manhasset, NY, United States, Division of Hematology [4] Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital [5] Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA, United States [6] Division of Genetics and Program in Genomics, Manton Center for Orphan Disease Research, Children's [7] Harvard Medical School, Boston, MA, United States, Division of Pediatric Hematology, Children's [8] Division of Pediatric Hematology/Oncology, Stanford University, School of Medicine, Stanford, CA [9]
发布时间 2013-11-20
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