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Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons
Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, kidney failure, and cognitive impairment. In spite of progress made in our general understanding of BBS aetiology, the molecular and cellular mechanisms underlying cognitive impairm...
Autores principales: | Haq, Naila, Schmidt-Hieber, Christoph, Sialana, Fernando J., Ciani, Lorenza, Heller, Janosch P., Stewart, Michelle, Bentley, Liz, Wells, Sara, Rodenburg, Richard J., Nolan, Patrick M., Forsythe, Elizabeth, Wu, Michael C., Lubec, Gert, Salinas, P., Häusser, Michael, Beales, Philip L., Christou-Savina, Sofia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743795/ https://www.ncbi.nlm.nih.gov/pubmed/31479441 http://dx.doi.org/10.1371/journal.pbio.3000414 |
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