Cargando…
A role for OCRL in glomerular function and disease
BACKGROUND: Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can manifest as Fanconi syndrome in the most extreme case...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056711/ https://www.ncbi.nlm.nih.gov/pubmed/31811534 http://dx.doi.org/10.1007/s00467-019-04317-4 |