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

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      Sangermano_etal_GIM_Deep_intronic_ABCA4_Variants_VoR.pdf (122.2Kb)
      Publication date
      08/2019
      Author
      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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      Citation
      Sangermano , R , Garanto , A , Khan , M , Runhart , E H , Bauwens , M , Bax , N M , van den Born , L I , Khan , M I , Cornelis , S S , Verheij , J B G M , Pott , J W R , Thiadens , A A H J , Klaver , C C W , Puech , B , Meunier , I , Naessens , S , Arno , G , Fakin , A , Carss , K J , Raymond , F L , Webster , A R , Dhaenens , C M , Stöhr , H , Grassmann , F , Weber , B H F , Hoyng , C B , De Baere , E , Albert , S , Collin , R W J & Cremers , F P M 2019 , ' Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides ' , Genetics in Medicine , vol. 21 , no. 8 , pp. 1751-1760 . https://doi.org/10.1038/s41436-018-0414-9
      URI
      https://hdl.handle.net/2164/18131
      DOI
      https://doi.org/10.1038/s41436-018-0414-9
      Rights
      This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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