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Mice with a conditional deletion of Talpid3 (KIAA0586) – a model for Joubert syndrome

Joubert syndrome (JS) is a ciliopathy associated with mutations in numerous genes encoding cilia components. TALPID3 encoded by KIAA0856 in man (2700049A03Rik in mouse) is a centrosomal protein essential for the assembly of primary cilia. Mutations in KIAA0856 have been recently identified in JS pat...

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Detalhes bibliográficos
Publicado no:J Pathol
Main Authors: Bashford, Andrew L, Subramanian, Vasanta
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Ltd 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6767539/
https://ncbi.nlm.nih.gov/pubmed/30924151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/path.5271
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