Article
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
The Journal of clinical endocrinology and metabolism - 1 Sept 1995
Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T
Abstract excerpt
Familial hypocalciuric hypercalcemia (FHH) is generally characterized by lifelong hypercalcemia without hypercalciuria and is inherited in an autosomal dominant manner. Affected individuals show abnormal parathyroid and renal responses to changes in the extracellular calcium concentration. A Japa...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Base Sequence
- Calcium
- Cattle
- Female
- Genes
- Genetic Testing
- Heterozygote
- Homozygote
- Humans
- Hypercalcemia
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational