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...

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Detalles Bibliográficos
Autores principales: Preston, Rebecca, Naylor, Richard W, Stewart, Graham, Bierzynska, Agnieszka, Saleem, Moin A, Lowe, Martin, Lennon, Rachel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Original Article
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

Internet

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

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