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

R Sangermano, A Garanto, MA Khan, EH Runhart, M Bauwens, NMA Bax, LI van den Born, MI Khan, SS Cornelis, J Verheij, JWR Pott, Alberta Thiadens, Caroline Klaver, B Puech, I Meunier, S Naessens, G Arno, A Fakin, KJ Carss, FL RaymondAR Webster, CM Dhaenens, H Stohr, F Grassmann, BHF Weber, CB Hoyng, E De Baere, S Albert, RWJ Collin, FPM Cremers

Research output: Contribution to journalArticleAcademicpeer-review

133 Citations (Scopus)
23 Downloads (Pure)
Original languageUndefined/Unknown
Pages (from-to)1751-1760
Number of pages10
JournalGenetics in Medicine
Volume21
Issue number8
DOIs
Publication statusPublished - 2019

Research programs

  • EMC NIHES-01-64-01

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