Impaired Photoreceptor Protein Transport and Synaptic Transmission in a Mouse Model of Bardet-Biedl Syndrome

Bardet-Biedl Syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, obesity and polydactylia. Evidence suggests that the main etiopathophysiology of this syndrome is impaired Intraflagellar Transport (IFT). In this study, we study the Bbs4-nu...

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Autori principali: Abd-El-Barr, Muhammad M., Sykoudis, Kristen, Andrabi, Sara, Eichers, Erica R., Pennesi, Mark E., Tan, Perciliz L., Wilson, John H., Katsanis, Nicholas, Lupski, James R., Wu, Samuel M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2007
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2661240/
https://ncbi.nlm.nih.gov/pubmed/18022666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.visres.2007.09.016
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