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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663628/
https://www.ncbi.nlm.nih.gov/pubmed/29049287
http://dx.doi.org/10.1371/journal.pgen.1007057

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663628/
https://www.ncbi.nlm.nih.gov/pubmed/29049287
http://dx.doi.org/10.1371/journal.pgen.1007057

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