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...

Full description

Saved in:
Bibliographic Details
Published in: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.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2015
Subjects:
Articles
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items