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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
- Sangermano, R (author)
- Garanto, A (author)
- Khan, M (author)
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- Runhart, EH (author)
- Bauwens, M (author)
- Bax, NM (author)
- van den Born, LI (author)
- Khan, MI (author)
- Cornelis, SS (author)
- Verheij, JBGM (author)
- Pott, JWR (author)
- Thiadens, AAHJ (author)
- Klaver, CCW (author)
- Puech, B (author)
- Meunier, I (author)
- Naessens, S (author)
- Arno, G (author)
- Fakin, A (author)
- Carss, KJ (author)
- Raymond, FL (author)
- Webster, AR (author)
- Dhaenens, CM (author)
- Stohr, H (author)
- Weber, BHF (author)
- Hoyng, CB (author)
- De Baere, E (author)
- Albert, S (author)
- Collin, RWJ (author)
- Cremers, FPM (author)
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- Elsevier BV, 2019
- 2019
- English.
- In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 21:8, s. 1751-1760
- Journal article (peer-reviewed)
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- Sangermano, R
- Garanto, A
- Khan, M
- Runhart, EH
- Bauwens, M
- Bax, NM
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- van den Born, LI
- Khan, MI
- Cornelis, SS
- Verheij, JBGM
- Pott, JWR
- Thiadens, AAHJ
- Klaver, CCW
- Puech, B
- Meunier, I
- Naessens, S
- Arno, G
- Fakin, A
- Carss, KJ
- Raymond, FL
- Webster, AR
- Dhaenens, CM
- Stohr, H
- Grassmann, F
- Weber, BHF
- Hoyng, CB
- De Baere, E
- Albert, S
- Collin, RWJ
- Cremers, FPM
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- Genetics in medi ...
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- Karolinska Institutet
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