Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly
由于内含子缺失导致的致病性异常剪接，导致剪接体组装的生物物理空间受限
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.07.013
Samantha J Bryen, Himanshu Joshi, Frances J Evesson, Cyrille Girard, Roula Ghaoui, Leigh B Waddell, Alison C Testa, Beryl Cummings, Susan Arbuckle, Nicole Graf, Richard Webster, Daniel G MacArthur, Nigel G Laing, Mark R Davis, Reinhard Lührmann, Sandra T Cooper1
