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

Crossref DOI link: https://doi.org/10.1038/s41436-018-0414-9

Published Print: 2019-08

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

Sangermano, Riccardo

Garanto, Alejandro

Khan, Mubeen

Runhart, Esmee H.

Bauwens, Miriam

Bax, Nathalie M.

van den Born, L. Ingeborgh

Khan, Muhammad Imran

Cornelis, Stéphanie S.

Verheij, Joke B.G.M.

Pott, Jan-Willem R.

Thiadens, Alberta A.H.J.

Klaver, Caroline C.W.

Puech, Bernard

Meunier, Isabelle

Naessens, Sarah

Arno, Gavin

Fakin, Ana

Carss, Keren J.

Raymond, F. Lucy

Webster, Andrew R.

Dhaenens, Claire-Marie

Stöhr, Heidi

Grassmann, Felix

Weber, Bernhard H.F.

Hoyng, Carel B.

De Baere, Elfride

Albert, Silvia

Collin, Rob W.J.

Cremers, Frans P.M.
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Text and Data Mining valid from 2019-08-01

Text and Data Mining valid from 2019-08-01

Version of Record valid from 2021-11-24
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This article is maintained by: Elsevier

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

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-018-0414-9

Content Type: article

Copyright: © 2019, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics