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Personalized medicine in chronic kidney disease by detection of monogenic mutations

A large fraction of early-onset chronic kidney disease (CKD) is known to be monogenic in origin. To date, ∼450 monogenic (synonymous with single-gene disorders) genes, if mutated, are known to cause CKD, explaining ∼30% of cases in pediatric cohorts and ∼5–30% in adult cohorts. However, there are li...

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Dades bibliogràfiques
Publicat a:Nephrol Dial Transplant
Autors principals: Connaughton, Dervla M, Hildebrandt, Friedhelm
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057531/
https://ncbi.nlm.nih.gov/pubmed/30809662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfz028
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