요약정보
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
- Resource Type
- Academic Journal
- Authors
- van der Made CI; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Centre and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Kersten S; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Centre and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Chorin O; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Engelhardt KR; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.; Ramakrishnan G; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Griffin H; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.; Schim van der Loeff I; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Paediatric Immunology and Infectious Diseases, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Venselaar H; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Rothschild AR; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Segev M; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Mantere T; Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland.; Essers R; Maastricht University Medical Centre MUMC+, Department of Clinical Genetics, Maastricht, the Netherlands; GROW School for Oncology and Developmental Biology, Department of Genetics and Cell Biology, Maastricht, the Netherlands.; Esteki MZ; Maastricht University Medical Centre MUMC+, Department of Clinical Genetics, Maastricht, the Netherlands; GROW School for Oncology and Developmental Biology, Department of Genetics and Cell Biology, Maastricht, the Netherlands.; Avital AL; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands.; Loo PS; Department of Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Simons A; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Warris A; MRC Centre for Medical Mycology, University of Exeter, Exeter, UK; Department of Paediatric Infectious Diseases, Great Ormond Street Hospital, London, UK.; Seyger MM; Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands.; van de Veerdonk FL; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Centre and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Netea MG; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Centre and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Slatter MA; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Paediatric Immunology and Infectious Diseases, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Flood T; Paediatric Immunology and Infectious Diseases, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Gennery AR; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Paediatric Immunology and Infectious Diseases, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Simon AJ; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Lev A; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Frizinsky S; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Barel O; The Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel.; van der Burg M; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands.; Somech R; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Hambleton S; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Paediatric Immunology and Infectious Diseases, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Henriet SSV; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; Hoischen A; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Centre and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands. Electronic address: alexander.hoischen@radboudumc.nl.
- Source
- Publisher:
Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN:00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE - Subject
- Language
- English