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Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans
A spectrum of complex oligogenic disorders called the ciliopathies have been connected to dysfunction of cilia. Among the ciliopathies are Nephronophthisis (NPHP), characterized by cystic kidney disease and retinal degeneration, and Meckel–Gruber syndrome (MKS), a gestational lethal condition with s...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Oxford University Press
2011
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3131040/ https://ncbi.nlm.nih.gov/pubmed/21546380 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr198 |
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