Nalaganje...

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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Clin Kidney J
Main Authors: Ars, Elisabet, Torra, Roser
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2017
Teme:
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!