Article
Inherited Renal Tubulopathies-Challenges and Controversies.
Genes - 5 Mar 2020
Iancu Daniela, Ashton Emma
Abstract excerpt
Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism. Establishing a genetic diagnosis in patients with renal tubular dysfunction is a challenging task given the genetic and...
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