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]
- The Journal of clinical endocrinology and metabolism Jun 2002
- 2681-7 p. digital
Publication Type: Journal Article
0021-972X
10.1210/jcem.87.6.8531 doi
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