Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

Authors:	Silvia Albert Alejandro Garanto Riccardo Sangermano Mubeen Khan Nathalie M. Bax Carel B. Hoyng Jana Zernant Winston Lee Rando Allikmets Rob W.J. Collin Frans P.M. Cremers

Affiliation:	1. Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands;2. Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 EN Nijmegen, the Netherlands;3. Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands;4. Department of Ophthalmology, Radboud University Medical Center, 6525 EX Nijmegen, the Netherlands;5. Department of Ophthalmology, Columbia University, New York, NY 10032, USA;6. Department of Pathology & Cell Biology, Columbia University, New York, NY 10032, USA

Abstract:

Keywords:	Stargardt disease ABCA4 deep-intronic mutation pseudoexon splicing modulation induced pluripotent stem cells photoreceptor precursor cells exonic splicing enhancer antisense oligonucleotide nonsense-mediated decay
本文献已被 ScienceDirect 等数据库收录！