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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2009
विषय:
Articles
ऑनलाइन पहुंच: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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