A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc

Antzeko izenburuak

• Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis—Identification of a Novel SLC34A3/NaPi-IIc Mutation
  nork: Phulwani, Priya, et al.
  Argitaratua: (2011)
• Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/NaPi-IIc can be Masked by Vitamin D Deficiency and can be Associated with Renal Calcifications
  nork: Kremke, B., et al.
  Argitaratua: (2008)
• Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis
  nork: Tencza, Amanda L., et al.
  Argitaratua: (2009)
• 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
  nork: Bergwitz, Clemens, et al.
  Argitaratua: (2006)
• Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
  nork: Lorenz-Depiereux, Bettina, et al.
  Argitaratua: (2006)