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Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms

Ciliopathies are genetic disorders that are caused by dysfunctional cilia and affect multiple organs. One type of ciliopathy, Bardet-Biedl Syndrome, is a rare disorder characterized by obesity, retinitis pigmentosa, polydactyly, mental retardation and susceptibility to cardiovascular diseases. The W...

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Hlavní autoři: Mei, Xue, Westfall, Trudi A., Zhang, Qihong, Sheffield, Val C., Bassuk, Alexander G., Slusarski, Diane C.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4114335/
https://ncbi.nlm.nih.gov/pubmed/24938409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ydbio.2014.05.020
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