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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...
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| Publicado no: | Proc Natl Acad Sci U S A |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7229662/ https://ncbi.nlm.nih.gov/pubmed/32332171 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1920777117 |
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