CASR gene activating mutations in two families with autosomal dominant hypocalcemia

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 548-552

  Guarnieri, Vito ^a   Valentina D'Elia, Angela ^b   Baorda, Filomena ^a   Pazienza, Valerio ^a   Benegiamo, Giorgia ^a   Stanziale, Pietro ^a   Copetti, Massimiliano ^a   Battista, Claudia ^a   Grimaldi, Franco ^b   Damante, Giuseppe ^b,c   Pellegrini, Fabio ^a,d   D'Agruma, Leonardo ^a   Zelante, Leopoldo ^a   Carella, Massimo ^a   Scillitani, Alfredo ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^c UNIVERSITY OF UDINE   (Italy)

^d Laboratory of Clinical Epidemiology of Diabetes and Chronic Diseases   (Italy)

Author keywords

ADH; CASR; Hypoparathyrodism; Mutation

Indexed keywords

CALCIUM SENSING RECEPTOR;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CELL MEMBRANE; CELL STRAIN HEK293; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOCALCEMIA; IDIOPATHIC HYPOPARATHYROIDISM; INTRACELLULAR SIGNALING; MALE; PRIORITY JOURNAL; PROTEIN FUNCTION; RECEPTOR GENE; RECEPTOR SENSITIVITY; TRANSIENT TRANSFECTION;

ADULT; AGED; CALCIUM; CALCIUM SIGNALING; DNA MUTATIONAL ANALYSIS; FEMALE; HEK293 CELLS; HOMEOSTASIS; HUMANS; HYPERCALCIURIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; MUTATION; PARATHYROID HORMONE; PEDIGREE; RECEPTORS, CALCIUM-SENSING; TRANSFECTION;

EID: 84867902006     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.06.012     Document Type: Article

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