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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha: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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