Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease

G Schiano, J Lake, M Mariniello, C Schaeffer… - bioRxiv, 2022 - biorxiv.org
Missense mutations in the UMOD gene encoding uromodulin cause autosomal dominant
tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney …

[PDF][PDF] Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease

G Schiano, J Lake, M Mariniello, C Schaeffer… - scholar.archive.org
Missense mutations in the UMOD gene encoding uromodulin cause autosomal dominant
tubulointerstitial kidney disease (ADTKD-UMOD). The mechanisms causing variable …

[HTML][HTML] Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease

G Schiano, J Lake, M Mariniello, C Schaeffer… - 2022 - europepmc.org
Missense mutations in the UMOD gene encoding uromodulin cause autosomal dominant
tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney …