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Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

Bardet-Biedl syndrome (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, polydactyly, and congenital anomalies. The incidence of hypertension and diabetes are also increased in BBS patients. Mutation of 16 genes independently causes BBS, and seven BBS proteins form the BBSome t...

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Autores principales: Zhang, Qihong, Nishimura, Darryl, Seo, Seongjin, Vogel, Tim, Morgan, Donald A., Searby, Charles, Bugge, Kevin, Stone, Edwin M., Rahmouni, Kamal, Sheffield, Val C.
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 2011
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3251145/
https://ncbi.nlm.nih.gov/pubmed/22139371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1113220108
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