Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Gelijkaardige items

• In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.
  door: Bai, M, et al.
  Gepubliceerd in: (1997)
• Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
  door: Janicic, N, et al.
  Gepubliceerd in: (1995)
• Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
  door: Bai, M, et al.
  Gepubliceerd in: (1997)
• Calcium Signaling Regulates Trafficking of Familial Hypocalciuric Hypercalcemia (FHH) Mutants of the Calcium Sensing Receptor
  door: Grant, Michael P., et al.
  Gepubliceerd in: (2012)
• A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
  door: Woo, Seong Ill, et al.
  Gepubliceerd in: (2006)