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Effect of PKD1 gene missense mutations on polycystin-1 membrane topogenesis
Polycystin-1 (PC1), the product of the Polycystic Kidney Disease-1 (PKD1) gene, has a number of reported missense mutations whose pathogenicity is indeterminate. Previously, we utilized N-linked glycosylation reporter tags along with membrane insertion and topology assays to define the eleven membra...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3079771/ https://ncbi.nlm.nih.gov/pubmed/21142036 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi101326w |
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