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Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

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作者单位: University College London UCL Institute of Immunity and Transplantation, London, UK. j.maimaris@ucl.ac.uk.;Paediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK. j.maimaris@ucl.ac.uk. [1] Immunology department, Manchester University Hospital National Health Service (NHS) Foundation Trust, Manchester, UK. [2] Paediatric department, Barts Hospital National Health Service (NHS) Foundation Trust, London, UK. [3] Paediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.;UCL Great Ormond Street Institute of Child Health, London, UK. [4] Advanced Cell Therapy Core, Research Department, Sidra Medicine, Doha, Qatar.;Pediatric Oncology, Haematology and Bone Marrow Transplantation Unit, Sidra Medicine, Doha, Qatar. [5] Pediatric Oncology, Haematology and Bone Marrow Transplantation Unit, Sidra Medicine, Doha, Qatar. [6] Genetics and Genomic Medicine Department, Sidra Medicine, Doha, Qatar. [7] Department of Paediatric Neurology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK. [8] Children's Neurosciences, Evelina London Children's Hospital Neurosciences Department, London, UK.;Faculty of Life Sciences and Medicine, King's College London, London, UK. [9] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK. [10] UCL Great Ormond Street Institute of Child Health, London, UK.;Department of Bone Marrow Transplantation, Great Ormond Street Hospital for Children NHS Trust, London, UK. [11]
DOI 10.1007/s10875-024-01842-2
PMID 39607447
发布时间 2024-12-05
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Journal of clinical immunology

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