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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Gepubliceerd in:PLoS Genet
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2017
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Research Article
Online toegang: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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