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Nephronophthisis: Disease Mechanisms of a Ciliopathy
Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1-9) and functional characterization of their encoded proteins (nephrocystins) has contributed to a unifying...
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| Autores principales: | , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2008
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2807379/ https://ncbi.nlm.nih.gov/pubmed/19118152 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2008050456 |
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