A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor. [electronic resource]
Producer: 20020703Description: 2681-7 p. digitalISSN:- 0021-972X
- Adolescent
- Adult
- Aged
- Amino Acid Sequence -- genetics
- Base Sequence -- genetics
- Blotting, Western
- Calcium -- blood
- Cell Line
- Child
- Female
- Genes, Dominant
- Humans
- Hypocalcemia -- blood
- Magnesium -- blood
- Male
- Middle Aged
- Molecular Sequence Data
- Pedigree
- Receptors, Calcium-Sensing
- Receptors, Cell Surface -- genetics
- Reference Values
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Publication Type: Journal Article
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