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Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK
CILK1 (ciliogenesis associated kinase 1)/ICK (intestinal cell kinase) is a highly conserved protein kinase that regulates primary cilia structure and function. CILK1 mutations cause a wide spectrum of human diseases collectively called ciliopathies. While several CILK1 heterozygous variants have bee...
Autores principales: | Salvati, Kathryn A., Mason, Ashley J., Gailey, Casey D., Wang, Eric J., Fu, Zheng, Beenhakker, Mark P. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396347/ https://www.ncbi.nlm.nih.gov/pubmed/34445580 http://dx.doi.org/10.3390/ijms22168875 |
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