Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
通过全基因靶向测序,在患有遗传性视网膜营养不良和ABCA4、USH2A和CEP290单等位基因变异的患者中寻找第二个命中。
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-018-31511-5
González-Del Pozo, María; Martín-Sánchez, Marta; Bravo-Gil, Nereida; Méndez-Vidal, Cristina; Chimenea, Ángel; Rodríguez-de la Rúa, Enrique; Borrego, Salud; Antiñolo, Guillermo