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Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects

Bardet-Biedl Syndrome (BBS, MIM#209900) is a genetically heterogeneous disorder with pleiotropic phenotypes that include retinopathy, mental retardation, obesity and renal abnormalities. Of the 15 genes identified so far, seven encode core proteins that form a stable complex called BBSome, which is...

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Autores principales: Veleri, Shobi, Bishop, Kevin, Dalle Nogare, Damian E., English, Milton A., Foskett, Trevor J., Chitnis, Ajay, Sood, Raman, Liu, Paul, Swaroop, Anand
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2012
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3315532/
https://ncbi.nlm.nih.gov/pubmed/22479622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0034389
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