Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

Skeletal ciliopathies are a group of disorders caused by dysfunction of the cilium, a small signaling organelle present on nearly every vertebrate cell. This group of disorders is marked by genetic and clinical heterogeneity, which complicates accurate diagnosis. In this study, we developed a robust...

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Detalles Bibliográficos
Autores principales: Doornbos, Cenna, van Beek, Ronald, Bongers, Ernie M. H. F., Lugtenberg, Dorien, Klaren, Peter. H. M., Vissers, Lisenka E. L. M., Roepman, Ronald, Oud, Machteld M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560805/
https://www.ncbi.nlm.nih.gov/pubmed/34040173
http://dx.doi.org/10.1038/s41431-021-00907-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560805/
https://www.ncbi.nlm.nih.gov/pubmed/34040173
http://dx.doi.org/10.1038/s41431-021-00907-9

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