TY  - GEN
AU  - Nagase,Terumasa
AU  - Murakami,Takehiko
AU  - Tsukada,Toshihiko
AU  - Kitamura,Ryuichi
AU  - Chikatsu,Noriko
AU  - Takeo,Hiroki
AU  - Takata,Nobuki
AU  - Yasuda,Hiroko
AU  - Fukumoto,Seiji
AU  - Tanaka,Yuji
AU  - Nagata,Naokazu
AU  - Yamaguchi,Ken
AU  - Akatsu,Takuhiko
AU  - Yamamoto,Michiko
TI  - 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
SN  - 0021-972X
PY  - 2002///0703
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Amino Acid Sequence
KW  - genetics
KW  - Base Sequence
KW  - Blotting, Western
KW  - Calcium
KW  - blood
KW  - Cell Line
KW  - Child
KW  - Female
KW  - Genes, Dominant
KW  - Humans
KW  - Hypocalcemia
KW  - Magnesium
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Receptors, Calcium-Sensing
KW  - Receptors, Cell Surface
KW  - Reference Values
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1210/jcem.87.6.8531
ER  -