机译:识别和拯救两种邻近深入的疾病患者两种邻近内肠道ABCA4突变引起的接头缺陷
Department of Human Genetics Radboud University Medical Center;
Department of Human Genetics Radboud University Medical Center;
Department of Human Genetics Radboud University Medical Center;
Department of Human Genetics Radboud University Medical Center;
Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center;
Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center;
Department of Ophthalmology Columbia University;
Department of Ophthalmology Columbia University;
Department of Ophthalmology Columbia University;
Department of Human Genetics Radboud University Medical Center;
Department of Human Genetics Radboud University Medical Center;
Stargardt disease; ABCA4; deep-intronic mutation; pseudoexon; splicing modulation; induced pluripotent stem cells; photoreceptor precursor cells; exonic splicing enhancer; antisense oligonucleotide; nonsense-mediated decay;
机译:识别和拯救两种邻近深入的疾病患者两种邻近内肠道ABCA4突变引起的接头缺陷
机译:基于反义寡核苷酸的ABCA4剪接缺陷的恢复引起的与晕虫病相关的深入内肠突变
机译:反义寡核苷酸筛选可优化抢救由Stargardt病的深部深度内含子ABCA4变异c.4539 + 2001G> A引起的剪接缺陷
机译:模糊逻辑观点应用于动态突变引起的疾病
机译:人类遗传疾病的多种机制:COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
机译:Stargardt病的两个相邻的深度内含子ABCA4突变引起的剪接缺陷的鉴定和挽救
机译:由于新的ABCA4缺失插入变体引起剪接缺陷,Pseudominant Stargardt患者中的表型基因型相关性