Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: Functional characterization of a novel CaR missense mutation

Clinical Endocrinology

Volumn 58, Issue 2, 2003, Pages 199-206

  Cetani, Filomena ^a   Pardi, Elena ^a   Borsari, Simona ^a   Tonacchera, Massimo ^a   Morabito, Eugenia ^a   Pinchera, Aido ^a   Marcocci, Claudio ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM SENSING RECEPTOR;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM ABSORPTION; CALCIUM TRANSPORT; CLINICAL ARTICLE; EXTRACELLULAR MATRIX; FAMILIAL DISEASE; FEMALE; GENETIC TRANSFECTION; HUMAN; HYPERCALCEMIA; ITALY; MALE; MISSENSE MUTATION; MOLECULAR CLONING; MULTIGENE FAMILY; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE;

ADULT; AGED; ANIMALS; CALCIUM; COS CELLS; FEMALE; GRAVES DISEASE; HUMANS; HYPERCALCEMIA; INOSITOL PHOSPHATES; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 0037318868     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2003.01696.x     Document Type: Article

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