Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, retinal degeneration, polydactyly, hypogenitalism and renal defects. Recent findings have associated the etiology of the disease with cilia, and BBS proteins have been implicated in traf...

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Detalhes bibliográficos
Main Authors: Chamling, Xitiz, Seo, Seongjin, Bugge, Kevin, Searby, Charles, Guo, Deng F., Drack, Arlene V., Rahmouni, Kamal, Sheffield, Val C.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3598656/
https://ncbi.nlm.nih.gov/pubmed/23554981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0059101
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