Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Geahča maid

• Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.
  Dahkki: Pearce, S, et al.
  Almmustuhtton: (1996)
• A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
  Dahkki: Mirczuk, S, et al.
  Almmustuhtton: (2010)
• A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
  Dahkki: Pearce, S, et al.
  Almmustuhtton: (1996)
• An activating calcium sensing receptor mutation associated with normocalcemic (idiopathic) hypercalciuric nephrolithiasis.
  Dahkki: Christie, P, et al.
  Almmustuhtton: (2002)
• A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.
  Dahkki: Hannan, F, et al.
  Almmustuhtton: (2010)