Nagase, Terumasa

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