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Ciliopathies: an expanding disease spectrum
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that includ...
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| Main Authors: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Springer-Verlag
2011
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3098370/ https://ncbi.nlm.nih.gov/pubmed/21210154 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-010-1731-7 |
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