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Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome
Donnai-Barrow syndrome (DBS) is an autosomal-recessive disorder characterized by multiple pathologies including malformation of forebrain and eyes, as well as resorption defects of the kidney proximal tubule. The underlying cause of DBS are mutations in LRP2, encoding the multifunctional endocytic r...
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| Publicado no: | Kidney Int |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7322522/ https://ncbi.nlm.nih.gov/pubmed/32471643 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.kint.2020.02.021 |
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