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A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

To identify the genetic defect in a family with variable retinal phenotypes.

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Bibliographic Details
Main Authors: Littink, Karin (Author) , Pott, Jan-Willem R. (Author) , Collin, Rob W. J. (Author) , Kroes, Hester Y. (Author) , Verheij, Joke B. G. M. (Author) , Blokland, Ellen A. W. (Author) , de Castro Miró, Marta (Author) , Hoyng, Carel B. (Author) , Klaver, Caroline C. W. (Author) , Koenekoop, Robert K. (Author) , Rohrschneider, Klaus (Author) , Cremers, Frans P. M. (Author) , van den Born, L. Ingeborgh (Author) , den Hollander, Anneke I. (Author)
Format: Article (Journal)
Language:English
Published: 2010
In: Investigative ophthalmology & visual science
Year: 2010, Volume: 51, Issue: 7, Pages: 3646-3652
ISSN:1552-5783
DOI:10.1167/iovs.09-5074
Online Access:Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1167/iovs.09-5074
Verlag, lizenzpflichtig, Volltext: https://iovs.arvojournals.org/article.aspx?articleid=2126833
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Author Notes:Karin W. Littink, Jan-Willem R. Pott, Rob W.J. Collin, Hester Y. Kroes, Joke B.G.M. Verheij, Ellen A.W. Blokland, Marta de Castro Miró, Carel B. Hoyng, Caroline C.W. Klaver, Robert K. Koenekoop, Klaus Rohrschneider, Frans P.M. Cremers, L. Ingeborgh van den Born, and Anneke I. den Hollander
Description
Summary:To identify the genetic defect in a family with variable retinal phenotypes.
Item Description:Gesehen am 28.03.2023
Physical Description:Online Resource
ISSN:1552-5783
DOI:10.1167/iovs.09-5074

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