Article
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
The Journal of clinical investigation - 15 Apr 1997
Bai M, Janicic N, Trivedi S, Quinn S J, Cole D E, Brown E M, Hendy G N
Abstract excerpt
Missense mutations have been identified in the coding region of the extracellular calcium-sensing receptor (CASR) gene and cause human autosomal dominant hypo- and hypercalcemic disorders. The functional effects of several of these mutations have been characterized in either Xenopus laevis oocyte...
Topics
- Animals
- Base Sequence
- Calcium
- Cell Line
- DNA Primers
- DNA, Complementary
- Genes, Dominant
- Glycosylation
- Humans
- Hypercalcemia
- Hyperparathyroidism
- Immunohistochemistry
- Infant, Newborn
- Mutation