Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

Lignende værker

• Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
  af: Janicic, N, et al.
  Udgivet: (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.
  af: Bai, M, et al.
  Udgivet: (1997)
• Uncertainties in distinction of typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia.
  af: Marx, S J
  Udgivet: (1982)
• Mutations in the Human Ca2+-Sensing-Receptor Gene That Cause Familial Hypocalciuric Hypercalcemia
  af: Chou, Yah-Huei Wu, et al.
  Udgivet: (1995)
• SUN-366 Neonatal Severe Hyperparathyroidism: Extreme Hypercalcemia as a Robust Marker for Homozygous Dosage of Pathogenic CASR Variants
  af: Marx, Stephen J, et al.
  Udgivet: (2020)