A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion

Heterozygous mutations in UMOD encoding the urinary protein uromodulin are the most common genetic cause of autosomal dominant tubulointerstitial kidney disease (ADTKD). We describe the exceptional case of a patient from a consanguineous family carrying a novel homozygous UMOD mutation (p.C120Y) aff...

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Detalles Bibliográficos
Autores principales: Edwards, Noel, Olinger, Eric, Adam, Jennifer, Kelly, Michael, Schiano, Guglielmo, Ramsbottom, Simon A, Sandford, Richard, Devuyst, Olivier, Sayer, John A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
ORIGINAL ARTICLES
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837645/
https://www.ncbi.nlm.nih.gov/pubmed/28605509
http://dx.doi.org/10.1093/ndt/gfx066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837645/
https://www.ncbi.nlm.nih.gov/pubmed/28605509
http://dx.doi.org/10.1093/ndt/gfx066

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