January 14, 2019Open Access

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

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Abstract

Our data demonstrate the importance of assessing noncoding variants in genetic diseases, and show the great potential of splice modulation therapy for deep-intronic variants.

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Sangermano et al. (Mon,) studied this question.

synapsesocial.com/papers/69d91e2e7fca1f84ab684382 https://doi.org/https://doi.org/10.1038/s41436-018-0414-9

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