Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia
编码DNA修复内切酶XPF的ERCC4基因突变会导致范可尼贫血症。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.04.002
Bogliolo, Massimo; Schuster, Beatrice; Stoepker, Chantal; Derkunt, Burak; Su, Yan; Raams, Anja; Trujillo, Juan P; Minguillón, Jordi; Ramírez, María J; Pujol, Roser; Casado, José A; Baños, Rocío; Rio, Paula; Knies, Kerstin; Zúñiga, Sheila; Benítez, Javier; Bueren, Juan A; Jaspers, Nicolaas G J; Schärer, Orlando D; de Winter, Johan P; Schindler, Detlev; Surrallés, Jordi