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

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H. Runhart, Miriam Bauwens, Nathalie M. Bax, L. Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S. Cornelis, Joke B.G.M. Verheij, Jan Willem R. Pott, Alberta A.H.J. Thiadens, Caroline C.W. Klaver, Bernard Puech, Isabelle Meunier, Sarah Naessens, Gavin Arno, Ana Fakin, Keren J. Carss, F. Lucy RaymondAndrew R. Webster, Claire Marie Dhaenens, Heidi Stöhr, Felix Grassmann, Bernhard H.F. Weber, Carel B. Hoyng, Elfride De Baere, Silvia Albert, Rob W.J. Collin* (Corresponding Author), Frans P.M. Cremers* (Corresponding Author)

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

130 Citations (Scopus)
3 Downloads (Pure)

Fingerprint

Dive into the research topics of 'Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides'. Together they form a unique fingerprint.

Medicine & Life Sciences