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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley & Sons, Ltd
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6767539/ https://www.ncbi.nlm.nih.gov/pubmed/30924151 http://dx.doi.org/10.1002/path.5271 |