Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

Usher syndrome (USH) and Leber congenital amaurosis (LCA) are autosomal recessive disorders resulting in syndromic and non-syndromic forms of blindness. In order to gain insight into the pathogenic mechanisms underlying retinal degeneration, we searched for interacting proteins of USH2A isoform B (U...

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Main Authors: van Wijk, Erwin, Kersten, Ferry F.J., Kartono, Aileen, Mans, Dorus A., Brandwijk, Kim, Letteboer, Stef J.F., Peters, Theo A., Märker, Tina, Yan, Xiumin, Cremers, Cor W.R.J., Cremers, Frans P.M., Wolfrum, Uwe, Roepman, Ronald, Kremer, Hannie
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2009
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3298862/
https://ncbi.nlm.nih.gov/pubmed/18826961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn312
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