Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 3, 2002, Pages 1309-1318

  D'Souza Li, Lilia ^a   Yang, Bing ^a   Canaff, Lucie ^a   Bai, Mei ^b   Hanley, David A ^f   Bastepe, Murat ^d   Salisbury, Sonia R ^c   Brown, Edward M ^d   Cole, David E C ^e   Hendy, Geoffrey N ^a  

^a ROYAL VICTORIA HOSPITAL   (Canada)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c DALHOUSIE UNIVERSITY   (Canada)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e UNIVERSITY OF TORONTO   (Canada)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM SENSING RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM HOMEOSTASIS; CELL SURFACE; CONCENTRATION RESPONSE; CONTROLLED STUDY; DISEASE SEVERITY; EXTRACELLULAR CALCIUM; GENE MUTATION; GLYCOSYLATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCEMIA; HYPOCALCIURIA; KIDNEY CELL; PRIORITY JOURNAL; REDUCTION; WILD TYPE;

CALCIUM; CELL LINE; CYTOSOL; EXTRACELLULAR SPACE; FLUORESCENT ANTIBODY TECHNIQUE; GENES, DOMINANT; GLYCOSYLATION; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; INFANT, NEWBORN; INTRACELLULAR MEMBRANES; MICROSCOPY, CONFOCAL; MUTATION; OSMOLAR CONCENTRATION; PEDIGREE; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; REFERENCE VALUES;

EID: 0036959850     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.87.3.1309     Document Type: Article

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