Associated Papers
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
Suarez-Artiles L et al.
Genes, 2018
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018
Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies.
Conduit SE et al.
Febs Letters, 2012
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H et al.
Human Mutation, 2011
Select a paper to view details