Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

Garanto Alex; Sangermano Riccardo; Albert Silvia; Khan Mubeen; Bauwens Miriam; Naessens Sarah; Allikmets Rando; Born Ingeborgh; Hoyng Carel C. B.; De Baere Elfride; Cremers Frans P.; Collin Rob W. J.

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Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

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

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来源
《Investigative ophthalmology & visual science》 |2018年第9期|共3页
作者
Garanto Alex; Sangermano Riccardo; Albert Silvia; Khan Mubeen; Bauwens Miriam; Naessens Sarah; Allikmets Rando; Born Ingeborgh; Hoyng Carel C. B.; De Baere Elfride; Cremers Frans P.; Collin Rob W. J.;
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作者单位

Radboudumc Human Genet Nijmegen Netherlands;

Radboudumc Human Genet Nijmegen Netherlands;

Radboudumc Human Genet Nijmegen Netherlands;

Radboudumc Human Genet Nijmegen Netherlands;

Univ Ghent Ctr Med Genet Ghent Belgium;

Univ Ghent Ctr Med Genet Ghent Belgium;

Columbia Univ Ophthalmol New York NY USA;

Rotterdam Eye Hosp Rotterdam Netherlands;

Radboudumc Human Genet Nijmegen Netherlands;

Univ Ghent Ctr Med Genet Ghent Belgium;

Radboudumc Human Genet Nijmegen Netherlands;

Radboudumc Human Genet Nijmegen Netherlands;

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正文语种 eng
中图分类眼科学;
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专利

1. Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease [J] . Garanto Alex, Sangermano Riccardo, Albert Silvia, Investigative ophthalmology & visual science . 2018,第9期

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
2. Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001GA in Stargardt Disease [J] . Alejandro Garanto, Lonneke Duijkers, Tomasz Z. Tomkiewicz, Genes . 2019,第6期

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
3. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease [J] . Silvia Albert, Alejandro Garanto, Riccardo Sangermano, The American Journal of Human Genetics . 2018,第4期

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
4. Fuzzy logic point of view applied to diseases caused by dynamic mutations [C] . Savic A., Jovanovic K., Mihailovic J., 12th IEEE International Symposium on Computational Intelligence and Informatics . 2011

机译：模糊逻辑观点应用于动态突变引起的疾病
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

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。
6. Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001GA in Stargardt Disease [O] . Alejandro Garanto, Lonneke Duijkers, Tomasz Z. Tomkiewicz, 2019

机译：反义寡核苷酸筛选可优化抢救由Stargardt病的复发性深部内含子ABCA4变异c.4539 + 2001G A引起的剪接缺陷
7. Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation [O] . Radulfus WN Slijkerman, Christel Vaché, Margo Dona, 2016

机译：基于反义寡核苷酸的剪接修复因常见的深内含子突变引起的UsH2a相关性视网膜变性

Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

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