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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Bibliographic Details
Main Authors: Xitiz Chamling, Seongjin Seo, Kevin Bugge, Charles Searby, Deng F Guo, Arlene V Drack, Kamal Rahmouni, Val C Sheffield
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3598656?pdf=render