Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia. [electronic resource]
Producer: 20010126Description: 591-8 p. digitalISSN:- 1096-7192
- Adult
- Animals
- Base Sequence
- COS Cells
- Calcium -- metabolism
- Child
- DNA Mutational Analysis
- Female
- Genes, Dominant -- genetics
- Genes, Reporter
- Humans
- Hypocalcemia -- enzymology
- Infant
- Male
- Molecular Sequence Data
- Mutation -- genetics
- Pedigree
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Protein Kinase C -- metabolism
- Receptors, Calcium-Sensing
- Receptors, Cell Surface -- genetics
- Transfection
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Publication Type: Journal Article
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