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BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.

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作者单位: Lymphocyte Cell Biology Section (Molecular Immunology and Inflammation Branch), Biodata Mining and Discovery Section and Protein Expression Laboratory, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA. [1] MRC Centre for Transplantation, King's College London, London, UK. [2] Molecular Development of the Immune System Section, NIAID Clinical Genomics Program, Biological Imaging Section (Research Technologies Branch) and Mucosal Immunity Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. [3] Molecular Neuroscience, Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK. [4] Department of Medicine, Imperial College London, London, UK. [5] Laboratory of Lymphocyte Signaling and Development, Babraham Institute, Cambridge, UK. [6] Translational Gastroenterology Unit, Nuffield Department of Medicine, John Radcliffe Hospital, Oxford, UK. [7] Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK. [8] Department of Biochemistry and Department of Computer Science, Purdue University, West Lafayette, Indiana, USA. [9] Imperial BRC Genomics Facility, Hammersmith Hospital, London, UK. [10] Merck Research Laboratories, Merck &Co. Inc., Boston, Massachusetts, USA. [11] Clinical Research Directorate/CMRP, Leidos Biomedical Research Inc., NCI at Frederick, Frederick, Maryland, USA. [12] National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. [13] Department of Paediatrics, University of Oxford, Oxford, UK. [14] Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK. [15] Department of Haematology, Northern Centre for Cancer Care, Newcastle upon Tyne, UK. [16]
DOI 10.1038/ni.3753
PMID 28530713
发布时间 2024-06-15
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Nature immunology

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