BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disabili...

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Bibliografiske detaljer
Udgivet i:PLoS Genet
Main Authors: Hsu, Ying, Garrison, Janelle E., Kim, Gunhee, Schmitz, Addison R., Searby, Charles C., Zhang, Qihong, Datta, Poppy, Nishimura, Darryl Y., Seo, Seongjin, Sheffield, Val C.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5663628/
https://ncbi.nlm.nih.gov/pubmed/29049287
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007057
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