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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Chamling, Xitiz, Seo, Seongjin, Bugge, Kevin, Searby, Charles, Guo, Deng F., Drack, Arlene V., Rahmouni, Kamal, Sheffield, Val C.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Public Library of Science 2013
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3598656/
https://ncbi.nlm.nih.gov/pubmed/23554981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0059101
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