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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Enregistré dans:
Détails bibliographiques
Publié dans:Proc Natl Acad Sci U S A
Auteurs principaux: 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
Langue:Inglês
Publié: National Academy of Sciences 2004
Sujets:
Biological Sciences
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC423252/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15173597/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0402354101
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