Article
Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
The Journal of clinical endocrinology and metabolism - 1 Jul 1998
Watanabe T, Bai M, Lane C R, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown E M, Yasuda T
Abstract excerpt
Activating mutations of the extracellular calcium (Ca2+e)-sensing receptor (CaR) gene, mostly in its extracellular domain, can cause both familial and sporadic hypoparathyroidism. We report a Japanese family with severe hypoparathyroidism with pretreatment serum calcium (Ca) levels of 4.9-5.9 mg/...
Topics
- Blotting, Western
- Calcium
- Cell Membrane
- Female
- Genes, Dominant
- Humans
- Hypocalcemia
- Hypoparathyroidism
- Infant, Newborn
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length