Article
Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.
The Journal of clinical endocrinology and metabolism - 1 Aug 1997
De Luca F, Ray K, Mancilla E E, Fan G F, Winer K K, Gore P, Spiegel A M, Baron J
Abstract excerpt
Activating mutations of the Ca(2+)-sensing receptor (CaR) gene have been identified in families with autosomal dominant hypoparathyroidism and in one patient with sporadic hypoparathyroidism. Here, we describe two additional patients with sporadic hypoparathyroidism. One patient presented with mi...
Topics
- Adult
- Autoanalysis
- Blotting, Western
- Cell Membrane
- Female
- Gene Expression
- Humans
- Hypoparathyroidism
- Mutation
- Polymerase Chain Reaction
- Receptors, Calcium-Sensing
- Receptors, Cell Surface
- Sequence Analysis, DNA
- Transfection