机译:深入内肠道ABCA4变体解释了Stargardt疾病中的遗传性,并通过反义寡核苷酸校正接头缺陷
Radboud Univ Nijmegen Dept Human Genet Med Ctr Nijmegen Netherlands;
Radboud Univ Nijmegen Dept Human Genet Med Ctr Nijmegen Netherlands;
Radboud Univ Nijmegen Dept Human Genet Med Ctr Nijmegen Netherlands;
Radboud Univ Nijmegen Donders Inst Brain Cognit &
Behav Med Ctr Nijmegen Netherlands;
Univ Ghent Ctr Med Genet Ghent Belgium;
Radboud Univ Nijmegen Donders Inst Brain Cognit &
Behav Med Ctr Nijmegen Netherlands;
Rotterdam Eye Hosp Rotterdam Netherlands;
Radboud Univ Nijmegen Dept Human Genet Med Ctr Nijmegen Netherlands;
Radboud Univ Nijmegen Dept Human Genet Med Ctr Nijmegen Netherlands;
Univ Groningen Univ Med Ctr Groningen Dept Med Genet Groningen Netherlands;
Univ Groningen Univ Med Ctr Groningen Dept Ophthalmol Groningen Netherlands;
Erasmus MC Dept Ophthalmol Rotterdam Netherlands;
Radboud Univ Nijmegen Dept Ophthalmol Med Ctr Nijmegen Netherlands;
Serv Explorat Vis CHU Lille France;
Univ Montpellier Inst Neurosci Montpellier INSERM U1051 Montpellier France;
Univ Ghent Ctr Med Genet Ghent Belgium;
UCL Inst Ophthalmol London England;
UCL Inst Ophthalmol London England;
Univ Cambridge Dept Haematol Cambridge England;
Cambridge Univ Hosp NHS Fdn Trust NIHR BioResource Cambridge Biomed Campus Cambridge England;
UCL Inst Ophthalmol London England;
Univ Lille Biochem &
Mol Biol Dept CHU Lille Inserm UMR S 1172UF Genopathies Lille France;
Univ Regensburg Inst Humangenet Regensburg Germany;
Univ Regensburg Inst Humangenet Regensburg Germany;
Univ Regensburg Inst Humangenet Regensburg Germany;
Radboud Univ Nijmegen Donders Inst Brain Cognit &
Behav Med Ctr Nijmegen Netherlands;
Univ Ghent Ctr Med Genet Ghent Belgium;
Radboud Univ Nijmegen Dept Human Genet Med Ctr Nijmegen Netherlands;
Radboud Univ Nijmegen Dept Human Genet Med Ctr Nijmegen Netherlands;
Radboud Univ Nijmegen Dept Human Genet Med Ctr Nijmegen Netherlands;
ABCA4; antisense oligonucleotide; deep-intronic variant; missing heritability; Stargardt disease;
机译:深入内肠道ABCA4变体解释了Stargardt疾病中的遗传性,并通过反义寡核苷酸校正接头缺陷
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: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:用反义寡核苷酸阻断封锁剪接增强剂位点的DMD拼接治疗调节
机译:在前列腺癌细胞中使用剪接切换寡核苷酸调节PSMA剪接变体。
机译:深度内含子ABCA4变体解释了Stargardt病缺失的遗传力并允许通过反义寡核苷酸纠正剪接缺陷
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