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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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Dades bibliogràfiques
Publicat a:Clin Kidney J
Autors principals: Ars, Elisabet, Torra, Roser
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2017
Matèries:
Accés en línia: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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