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Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy

The Lowe oculocerebrorenal syndrome is an X-linked disorder characterized by congenital cataracts, cognitive disability, and proximal tubular dysfunction. Both this syndrome and Dent Disease 2 result from loss-of-function mutations in the OCRL gene, which encodes a type II phosphatidylinositol bisph...

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Detalhes bibliográficos
Main Authors: Bothwell, Susan P., Chan, Emily, Bernardini, Isa M., Kuo, Yien-Ming, Gahl, William A., Nussbaum, Robert L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3060438/
https://ncbi.nlm.nih.gov/pubmed/21183592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2010050565
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