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Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics
A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of t...
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| Publicado no: | Clin Kidney J |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5622904/ https://ncbi.nlm.nih.gov/pubmed/28980669 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfx051 |
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