Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium. Mutations in genes coding for IFT components have been associated with a group...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Bujakowska, Kinga M., Zhang, Qi, Siemiatkowska, Anna M., Liu, Qin, Place, Emily, Falk, Marni J., Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I., Cremers, Frans P.M., Leroy, Bart P., Gai, Xiaowu, Sahel, José-Alain, van den Born, L. Ingeborgh, Collin, Rob W.J., Zeitz, Christina, Audo, Isabelle, Pierce, Eric A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4326328/
https://ncbi.nlm.nih.gov/pubmed/25168386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu441
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