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Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain
Genetic variants in PKD2 which encodes for the polycystin-2 ion channel are responsible for many clinical cases of autosomal dominant polycystic kidney disease (ADPKD). Despite our strong understanding of the genetic basis of ADPKD, we do not know how most variants impact channel function. Polycysti...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
National Academy of Sciences
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229662/ https://www.ncbi.nlm.nih.gov/pubmed/32332171 http://dx.doi.org/10.1073/pnas.1920777117 |