SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaP(i)-IIc in Maintaining Phosphate Homeostasis

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of autosomal recessive inheritance that was first described in a large consanguineous Bedouin kindred. HHRH is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or...

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Main Authors: Bergwitz, Clemens, Roslin, Nicole M., Tieder, Martin, Loredo-Osti, J C., Bastepe, Murat, Abu-Zahra, Hilal, Frappier, Danielle, Burkett, Kelly, Carpenter, Thomas O., Anderson, Donald, Garabédian, Michèle, Sermet, Isabelle, Fujiwara, T. Mary, Morgan, Kenneth, Tenenhouse, Harriet S., Jüppner, Harald
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380228/
https://ncbi.nlm.nih.gov/pubmed/16358214
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