Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants
基因组不稳定是携带双等位基因ERCC6L2变异的骨髓衰竭患者转录缺陷的结果。
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.1803275115
Tummala, Hemanth; Dokal, Arran D; Walne, Amanda; Ellison, Alicia; Cardoso, Shirleny; Amirthasigamanipillai, Saranha; Kirwan, Michael; Browne, Isobel; Sidhu, Jasmin K; Rajeeve, Vinothini; Rio-Machin, Ana; Seraihi, Ahad Al; Duncombe, Andrew S; Jenner, Matthew; Smith, Owen P; Enright, Helen; Norton, Alice; Aksu, Tekin; Özbek, Namık Yaşar; Pontikos, Nikolas; Cutillas, Pedro; Dokal, Inderjeet; Vulliamy, Tom