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A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI. Littink KW, et al. Among authors: klaver cc. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3646-52. doi: 10.1167/iovs.09-5074. Epub 2010 Feb 3. Invest Ophthalmol Vis Sci. 2010. PMID: 20130272
The spectrum of phenotypes caused by variants in the CFH gene.
Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI. Boon CJ, et al. Among authors: klaver cc. Mol Immunol. 2009 May;46(8-9):1573-94. doi: 10.1016/j.molimm.2009.02.013. Epub 2009 Mar 17. Mol Immunol. 2009. PMID: 19297022 Review.
Association of cognitive functioning with retinal nerve fiber layer thickness.
van Koolwijk LM, Despriet DD, Van Duijn CM, Oostra BA, van Swieten JC, de Koning I, Klaver CC, Lemij HG. van Koolwijk LM, et al. Among authors: klaver cc. Invest Ophthalmol Vis Sci. 2009 Oct;50(10):4576-80. doi: 10.1167/iovs.08-3181. Epub 2009 May 6. Invest Ophthalmol Vis Sci. 2009. PMID: 19420335
384 results