Buchumschlag

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.

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Littink, Karin (VerfasserIn) , Pott, Jan-Willem R. (VerfasserIn) , Collin, Rob W. J. (VerfasserIn) , Kroes, Hester Y. (VerfasserIn) , Verheij, Joke B. G. M. (VerfasserIn) , Blokland, Ellen A. W. (VerfasserIn) , de Castro Miró, Marta (VerfasserIn) , Hoyng, Carel B. (VerfasserIn) , Klaver, Caroline C. W. (VerfasserIn) , Koenekoop, Robert K. (VerfasserIn) , Rohrschneider, Klaus (VerfasserIn) , Cremers, Frans P. M. (VerfasserIn) , van den Born, L. Ingeborgh (VerfasserIn) , den Hollander, Anneke I. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2010
In: Investigative ophthalmology & visual science
Year: 2010, Jahrgang: 51, Heft: 7, Pages: 3646-3652
ISSN:1552-5783
DOI:10.1167/iovs.09-5074
Online-Zugang:Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1167/iovs.09-5074
Verlag, lizenzpflichtig, Volltext: https://iovs.arvojournals.org/article.aspx?articleid=2126833
Volltext
Verfasserangaben: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

MARC

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