Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation
在显性遗传的人类RPE65基因c.1430A>G突变敲入小鼠模型中,异常的RNA剪接是主要的致病效应。
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23706
Li, Yan; Furhang, Rachel; Ray, Amanda; Duncan, Todd; Soucy, Joseph; Mahdi, Rashid; Chaitankar, Vijender; Gieser, Linn; Poliakov, Eugenia; Qian, Haohua; Liu, Pinghu; Dong, Lijin; Rogozin, Igor B; Redmond, T Michael