The American Journal of Human Genetics
Volume 102, Issue 4, 5 April 2018, Pages 517-527
ArticleIdentification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
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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
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© 2018 American Society of Human Genetics.