Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
ABCA4基因深内含子变异解释了Stargardt病中遗传性的缺失,并允许通过反义寡核苷酸纠正剪接缺陷。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-018-0414-9
Sangermano, Riccardo; Garanto, Alejandro; Khan, Mubeen; Runhart, Esmee H; Bauwens, Miriam; Bax, Nathalie M; van den Born, L Ingeborgh; Khan, Muhammad Imran; Cornelis, Stéphanie S; Verheij, Joke B G M; Pott, Jan-Willem R; Thiadens, Alberta A H J; Klaver, Caroline C W; Puech, Bernard; Meunier, Isabelle; Naessens, Sarah; Arno, Gavin; Fakin, Ana; Carss, Keren J; Raymond, F Lucy; Webster, Andrew R; Dhaenens, Claire-Marie; Stöhr, Heidi; Grassmann, Felix; Weber, Bernhard H F; Hoyng, Carel B; De Baere, Elfride; Albert, Silvia; Collin, Rob W J; Cremers, Frans P M