Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants.

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作者： Hemanth,Tummala ^[1] ; Arran D,Dokal ^[2] ; Amanda,Walne ^[3] ; Alicia,Ellison ^[3] ; Shirleny,Cardoso ^[3] ; Saranha,Amirthasigamanipillai ^[3] ; Michael,Kirwan ^[3] ; Isobel,Browne ^[3] ; Jasmin K,Sidhu ^[3] ; Vinothini,Rajeeve ^[2] ; Ana,Rio-Machin ^[2] ; Ahad Al,Seraihi ^[2] ; Andrew S,Duncombe ^[4] ; Matthew,Jenner ^[4] ; Owen P,Smith ^[5] ; Helen,Enright ^[6] ; Alice,Norton ^[7] ; Tekin,Aksu ^[8] ; Namık Yaşar,Özbek ^[8] ; Nikolas,Pontikos ^[9] ; Pedro,Cutillas ^[2] ; Inderjeet,Dokal ^[3] ; Tom,Vulliamy ^[3]

作者单位： Genomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom; h.tummala@qmul.ac.uk. ^[1] Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom. ^[2] Genomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom. ^[3] Department of Haematology, University Hospital Southampton, SO16 6YD Southampton, United Kingdom. ^[4] Our Lady's Children's Hospital, Trinity College Dublin, Crumlin, Dublin 12, Ireland. ^[5] Adelaide and Meath Hospital, Trinity College Medical School, Dublin 24, Ireland. ^[6] Department of Clinical and Laboratory Haematology, Birmingham Children's Hospital, B4 6NH Birmingham, United Kingdom. ^[7] Pediatric Hematology and Oncology, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, University of Health Sciences, Ankara 06100, Turkey. ^[8] UCL Institute of Ophthalmology, University College London, EC1V 9EL London, United Kingdom. ^[9]

关键词 DNA repair DNA-PK ERCC6L2 R loops transcription