Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs
FANCC 中突变 TT 剪接供体处的正确 mRNA 加工可改善患者的临床表型,并通过抑制子 U1 snRNA 的递送得到增强
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.08.016
Linda Hartmann, Kornelia Neveling, Stephanie Borkens, Hildegard Schneider, Marcel Freund, Elke Grassman, Stephan Theiss, Angela Wawer, Stefan Burdach, Arleen D Auerbach, Detlev Schindler, Helmut Hanenberg, Heiner Schaal