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Bardet–Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

The functions of the proteins encoded by the Bardet–Biedl syndrome (BBS) genes are unknown. Mutations in these genes lead to the pleiotropic human disorder BBS, which is characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Se...

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Bibliografiske detaljer
Main Authors: Mykytyn, Kirk, Mullins, Robert F., Andrews, Michael, Chiang, Annie P., Swiderski, Ruth E., Yang, Baoli, Braun, Terry, Casavant, Thomas, Stone, Edwin M., Sheffield, Val C.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2004
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC423252/
https://ncbi.nlm.nih.gov/pubmed/15173597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0402354101
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