Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Ítems similars

• Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
  per: Janicic, N, et al.
  Publicat: (1995)
• Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.
  per: Pollak, M R, et al.
  Publicat: (1994)
• Ruling in a Suspect: The Role of AP2S1 Mutations in Familial Hypocalciuric Hypercalcemia Type 3
  per: Hendy, Geoffrey N., et al.
  Publicat: (2013)
• 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.
  per: Bai, M, et al.
  Publicat: (1997)
• Uncertainties in distinction of typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia.
  per: Marx, S J
  Publicat: (1982)