A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: Identification of a novel gain of function mutation (Ser820Phe) in the calcium-sensing receptor

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 6, 2002, Pages 2681-2687

  Nagase, Terumasa ^a   Murakami, Takehiko ^b   Tsukada, Toshihiko ^b   Kitamura, Ryuichi ^c   Chikatsu, Noriko ^d   Takeo, Hiroki ^e   Takata, Nobuki ^e   Yasuda, Hiroko ^a   Fukumoto, Seiji ^b   Tanaka, Yuji ^d   Nagata, Naokazu ^a   Yamaguchi, Ken ^b   Akatsu, Takuhiko ^c   Yamamoto, Michiko ^a,e  

^a NATIONAL CANCER CENTER RESEARCH INSTITUTE   (Japan)

^b NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^c UNIVERSITY OF TOKYO HOSPITAL   (Japan)

^d Self Defense Forces Central Hospital   (Japan)

^e NIIGATA UNIVERSITY OF HEALTH AND WELFARE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; MAGNESIUM; PHENYLALANINE; SERINE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM BLOOD LEVEL; CALCIUM CELL LEVEL; CAR GENE; CONCENTRATION RESPONSE; CONTROLLED STUDY; CORRELATION ANALYSIS; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYPOCALCEMIA; HYPOPARATHYROIDISM; MAGNESIUM BLOOD LEVEL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; SCHOOL CHILD; URINARY EXCRETION;

EID: 18444400225     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.6.8531     Document Type: Article

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