Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T → C mutation in Stargardt disease
To elucidate the functional effect of the ABCA4 variant c.5461-10T→C, one of the most frequent variants associated with Stargardt disease (STGD1).
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
12 March 2016
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| In: |
Ophthalmology
Year: 2016, Jahrgang: 123, Heft: 6, Pages: 1375-1385 |
| ISSN: | 1549-4713 |
| DOI: | 10.1016/j.ophtha.2016.01.053 |
| Online-Zugang: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ophtha.2016.01.053 Verlag, lizenzpflichtig, Volltext: http://www.sciencedirect.com/science/article/pii/S0161642016001597 
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| Verfasserangaben: | Riccardo Sangermano, Nathalie M. Bax, Miriam Bauwens, L. Ingeborgh van den Born, Elfride De Baere, Alejandro Garanto, Rob W.J. Collin, Angelique S.A. Goercharn-Ramlal, Anke H.A. den Engelsman-van Dijk, Klaus Rohrschneider, Carel B. Hoyng, Frans P.M. Cremers, Silvia Albert |
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| 520 | |a To elucidate the functional effect of the ABCA4 variant c.5461-10T→C, one of the most frequent variants associated with Stargardt disease (STGD1). | ||
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