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).

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Bibliographic Details
Main Authors:	Sangermano, Riccardo (Author) , Bax, Nathalie M. (Author) , Bauwens, Miriam (Author) , van den Born, L. Ingeborgh (Author) , De Baere, Elfride (Author) , Garanto, Alejandro (Author) , Collin, Rob W. J. (Author) , Goercharn-Ramlal, Angelique S. A. (Author) , den Engelsman-van Dijk, Anke H. A. (Author) , Rohrschneider, Klaus (Author) , Hoyng, Carel B. (Author) , Cremers, Frans P. M. (Author) , Albert, Silvia (Author)
Format:	Article (Journal)
Language:	English
Published:	12 March 2016
In:	Ophthalmology Year: 2016, Volume: 123, Issue: 6, Pages: 1375-1385
ISSN:	1549-4713
DOI:	10.1016/j.ophtha.2016.01.053
Online Access:	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
Author Notes:	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

Description
Summary:	To elucidate the functional effect of the ABCA4 variant c.5461-10T→C, one of the most frequent variants associated with Stargardt disease (STGD1).
Item Description:	Gesehen am 08.05.2020
Physical Description:	Online Resource
ISSN:	1549-4713
DOI:	10.1016/j.ophtha.2016.01.053