Dent Disease with Mutations in OCRL1

Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease characterized by renal tubulopathy, congenital cataracts, and mental retardation, is associated with mutations in the gene OCRL1, which encodes a...

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Autors principals: Hoopes, Richard R., Shrimpton, Antony E., Knohl, Stephen J., Hueber, Paul, Hoppe, Bernd, Matyus, Janos, Simckes, Ari, Tasic, Velibor, Toenshoff, Burkhard, Suchy, Sharon F., Nussbaum, Robert L., Scheinman, Steven J.
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2005
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1196371/
https://ncbi.nlm.nih.gov/pubmed/15627218
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