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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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Hlavní autoři: Zhang, Qihong, Nishimura, Darryl, Seo, Seongjin, Vogel, Tim, Morgan, Donald A., Searby, Charles, Bugge, Kevin, Stone, Edwin M., Rahmouni, Kamal, Sheffield, Val C.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2011
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On-line přístup: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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