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.
; 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. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
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. and Cremers, Frans 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 21 (8), pp. 1751-1760.
Date of publication of this fulltext: 03 Sep 2021 09:55
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| Item type | Article | ||||
| Journal or Publication Title | Genetics in Medicine | ||||
| Publisher: | Nature | ||||
|---|---|---|---|---|---|
| Place of Publication: | NEW YORK | ||||
| Volume: | 21 | ||||
| Number of Issue or Book Chapter: | 8 | ||||
| Page Range: | pp. 1751-1760 | ||||
| Date | 2019 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | IN-VITRO; MUTATIONS; GENE; REVEALS; POPULATION; ABCA4; antisense oligonucleotide; deep-intronic variant; missing heritability; Stargardt disease | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 48409 |
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